Lauri Aaltonen

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: INTERNATIONAL JOURNAL OF CANCER. 2024;154(11):1987-1998

GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines.

Nummela P; Zafar S; Veikkolainen E; Ukkola I; Cinella V; Ayo A; Asghar MY; Välimäki N; Törnquist K; Karhu A; Laakkonen P; Aaltonen LA; Ristimäki A
Article: GASTROENTEROLOGY. 2023;165(4):861-873

Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5.

Giri AK; Aavikko M; Wartiovaara L; Lemmetyinen T; Karjalainen J; Mehtonen J; Palin K; Välimäki N; Tamlander M; Saikkonen R; Karhu A; Morgunova E; Sun B; Runz H; Palta P; Luo S; Joensuu H; Mäkelä TP; Kostiainen I; Schalin-Jäntti C; FinnGen; Palotie A; Aaltonen LA; Ollila S; Daly MJ
Article: NATURE COMMUNICATIONS. 2023;14(1):5313

Transposable elements as tissue-specific enhancers in cancers of endodermal lineage.

Karttunen K; Patel D; Xia J; Fei L; Palin K; Aaltonen L; Sahu B
Article: GENOME MEDICINE. 2023;15(1):47

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.

Sanjaya P; Maljanen K; Katainen R; Waszak SM; Genomics England Research Consortium; Aaltonen LA; Stegle O; Korbel JO; Pitkänen E
Article: HUMAN MOLECULAR GENETICS. 2023;32(7):1063-1071

Molecular subclass of uterine fibroids predicts tumor shrinkage in response to ulipristal acetate.

Kolterud Å; Välimäki N; Kuisma H; Patomo J; Ilves ST; Mäkinen N; Kaukomaa J; Palin K; Kaasinen E; Karhu A; Pasanen A; Bützow R; Heikinheimo O; Kopp Kallner H; Aaltonen LA
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2023;110(3):460-474

Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas.

Välimäki N; Jokinen V; Cajuso T; Kuisma H; Taira A; Dagnaud O; Ilves S; Kaukomaa J; Pasanen A; Palin K; Heikinheimo O; Bützow R; Aaltonen LA; Karhu A
Article: NATURE COMMUNICATIONS. 2023;14(1):542

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.

Sliz E; Tyrmi JS; Rahmioglu N; Zondervan KT; Becker CM; FinnGen; Uimari O; Kettunen J
Article: CLINICAL EPIGENETICS. 2023;15(1):7

Vitamin C boosts DNA demethylation in TET2 germline mutation carriers.

Taira A; Palin K; Kuosmanen A; Välimäki N; Kuittinen O; Kuismin O; Kaasinen E; Rajamäki K; Aaltonen LA
Article: NATURE GENETICS. 2023;55(1):89-99

Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.

Fernandez-Rozadilla C; Timofeeva M; Chen Z; Law P; Thomas M; Schmit S; Díez-Obrero V; Hsu L; Fernandez-Tajes J; Palles C; Sherwood K; Briggs S; Svinti V; Donnelly K; Farrington S; Blackmur J; Vaughan-Shaw P; Shu X-O; Long J; Cai Q; Guo X; Lu Y; Broderick P; Studd J; Huyghe J; Harrison T; Conti D; Dampier C; Devall M; Schumacher F; Melas M; Rennert G; Obón-Santacana M; Martín-Sánchez V; Moratalla-Navarro F; Oh JH; Kim J; Jee SH; Jung KJ; Kweon S-S; Shin M-H; Shin A; Ahn Y-O; Kim D-H; Oze I; Wen W; Matsuo K; Matsuda K; Tanikawa C; Ren Z; Gao Y-T; Jia W-H; Hopper J; Jenkins M; Win AK; Pai R; Figueiredo J; Haile R; Gallinger S; Woods M; Newcomb P; Duggan D; Cheadle J; Kaplan R; Maughan T; Kerr R; Kerr D; Kirac I; Böhm J; Mecklin L-P; Jousilahti P; Knekt P; Aaltonen L; Rissanen H; Pukkala E; Eriksson J; Cajuso T; Hänninen U; Kondelin J; Palin K; Tanskanen T; Renkonen-Sinisalo L; Zanke B; Männistö S; Albanes D; Weinstein S; Ruiz-Narvaez E; Palmer J; Buchanan D; Platz E; Visvanathan K; Ulrich C; Siegel E; Brezina S; Gsur A; Campbell P; Chang-Claude J; Hoffmeister M; Brenner H; Slattery M; Potter J; Tsilidis K; Schulze M; Gunter M; Murphy N; Castells A; Castellví-Bel S; Moreira L; Arndt V; Shcherbina A; Stern M; Pardamean B; Bishop T; Giles G; Southey M; Idos G; McDonnell K; Abu-Ful Z; Greenson J; Shulman K; Lejbkowicz F; Offit K; Su Y-R; Steinfelder R; Keku T; van Guelpen B; Hudson T; Hampel H; Pearlman R; Berndt S; Hayes R; Martinez ME; Thomas S; Corley D; Pharoah P; Larsson S; Yen Y; Lenz H-J; White E; Li L; Doheny K; Pugh E; Shelford T; Chan A; Cruz-Correa M; Lindblom A; Hunter D; Joshi A; Schafmayer C; Scacheri P; Kundaje A; Nickerson D; Schoen R; Hampe J; Stadler Z; Vodicka P; Vodickova L; Vymetalkova V; Papadopoulos N; Edlund C; Gauderman W; Thomas D; Shibata D; Toland A; Markowitz S; Kim A; Chanock S; van Duijnhoven F; Feskens E; Sakoda L; Gago-Dominguez M; Wolk A; Naccarati A; Pardini B; FitzGerald L; Lee SC; Ogino S; Bien S; Kooperberg C; Li C; Lin Y; Prentice R; Qu C; Bézieau S; Tangen C; Mardis E; Yamaji T; Sawada N; Iwasaki M; Haiman C; Le Marchand L; Wu A; Qu C; McNeil C; Coetzee G; Hayward C; Deary I; Harris S; Theodoratou E; Reid S; Walker M; Ooi LY; Moreno V; Casey G; Gruber S; Tomlinson I; Zheng W; Dunlop M; Houlston R; Peters U
Article: VASCULAR. 2022;30(5):842-847

Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.

Donner I; Sipilä LJ; Plaketti R-M; Kuosmanen A; Forsström L; Katainen R; Kuismin O; Aavikko M; Romsi P; Kariniemi J; Aaltonen LA
Article: SCIENTIFIC REPORTS. 2022;12(1):15126

Sex-specific familial aggregation of cancers in Finland.

Sipilä LJ; Seppä K; Aavikko M; Ravantti J; Heikkinen S; Aaltonen LA; Pitkäniemi J
Article: AMERICAN JOURNAL OF SURGICAL PATHOLOGY. 2022;46(8):1126-1136

Histopathologic and Molecular Characterization of Uterine Leiomyoma-like Inflammatory Myofibroblastic Tumor: Comparison to Molecular Subtypes of Uterine Leiomyoma.

Kuisma H; Jokinen V; Pasanen A; Heikinheimo O; Karhu A; Välimäki N; Aaltonen L; Bützow R
Article: JOURNAL OF MEDICAL GENETICS. 2022;59(7):644-651

Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.

Katainen R; Donner I; Räisänen M; Berta D; Kuosmanen A; Kaasinen E; Hietala M; Aaltonen LA
Article: AMERICAN JOURNAL OF SURGICAL PATHOLOGY. 2022;46(4):537-546

Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas.

Ahvenainen T; Kaukomaa J; Kämpjärvi K; Uimari O; Ahtikoski A; Mäkinen N; Heikinheimo O; Aaltonen LA; Karhu A; Bützow R; Vahteristo P
Article: HUMAN MOLECULAR GENETICS. 2021;30(24):2429-2440

WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.

Aavikko M; Kaasinen E; Andersson N; Pentinmikko N; Sulo P; Donner I; Pihlajamaa P; Kuosmanen A; Bramante S; Katainen R; Sipilä LJ; Martin S; Arola J; Carpén O; Heiskanen I; Mecklin J-P; Taipale J; Ristimäki A; Lehti K; Gucciardo E; Katajisto P; Schalin-Jäntti C; Vahteristo P; Aaltonen LA
Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2021;100(11):2066-2075

Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.

Uimari O; Ahtikoski A; Kämpjärvi K; Butzow R; Järvelä IY; Ryynänen M; Aaltonen LA; Vahteristo P; Kuismin O
Article: NATURE COMMUNICATIONS. 2021;12(1):5448

Parity associates with chromosomal damage in uterine leiomyomas.

Kuisma H; Bramante S; Rajamäki K; Sipilä LJ; Kaasinen E; Kaukomaa J; Palin K; Mäkinen N; Sjöberg J; Sarvilinna N; Taipale J; Kauppi L; Tumiati M; Hassinen A; Pitkäniemi J; Jalkanen J; Heikkinen S; Pasanen A; Heikinheimo O; Bützow R; Välimäki N; Aaltonen LA
Article: ONCOGENE. 2021;40(36):5533-5547

Human cell transformation by combined lineage conversion and oncogene expression.

Sahu B; Pihlajamaa P; Zhang K; Palin K; Ahonen S; Cervera A; Ristimäki A; Aaltonen LA; Hautaniemi S; Taipale J
Article: NATURE. 2021;596(7872):398-403

Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma.

Berta DG; Kuisma H; Välimäki N; Räisänen M; Jäntti M; Pasanen A; Karhu A; Kaukomaa J; Taira A; Cajuso T; Nieminen S; Penttinen R-M; Ahonen S; Lehtonen R; Mehine M; Vahteristo P; Jalkanen J; Sahu B; Ravantti J; Mäkinen N; Rajamäki K; Palin K; Taipale J; Heikinheimo O; Bützow R; Kaasinen E; Aaltonen LA
Article: GASTROENTEROLOGY. 2021;161(2):592-607

Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer.

Rajamäki K; Taira A; Katainen R; Välimäki N; Kuosmanen A; Plaketti R-M; Seppälä TT; Ahtiainen M; Wirta E-V; Vartiainen E; Sulo P; Ravantti J; Lehtipuro S; Granberg KJ; Nykter M; Tanskanen T; Ristimäki A; Koskensalo S; Renkonen-Sinisalo L; Lepistö A; Böhm J; Taipale J; Mecklin J-P; Aavikko M; Palin K; Aaltonen LA
Article: GENES CHROMOSOMES & CANCER. 2021;60(7):463-473

No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers.

Kondelin J; Martin S; Katainen R; Renkonen-Sinisalo L; Lepistö A; Koskensalo S; Böhm J; Mecklin J-P; Cajuso T; Hänninen UA; Välimäki N; Ravantti J; Rajamäki K; Palin K; Aaltonen LA
Article: CLINICAL EPIGENETICS. 2021;13(1):88

Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis.

Bazzocco S; Dopeso H; Martínez-Barriocanal Á; Anguita E; Nieto R; Li J; García-Vidal E; Maggio V; Rodrigues P; de Marcondes PG; Schwartz S; Aaltonen LA; Sánchez A; Mariadason JM; Arango D
Article: NATURE COMMUNICATIONS. 2021;12(1):2182

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.

Natarajan P; Pampana A; Graham SE; Ruotsalainen SE; Perry JA; de Vries PS; Broome JG; Pirruccello JP; Honigberg MC; Aragam K; Wolford B; Brody JA; Antonacci-Fulton L; Arden M; Aslibekyan S; Assimes TL; Ballantyne CM; Bielak LF; Bis JC; Cade BE; Do R; Doddapaneni H; Emery LS; Hung Y-J; Irvin MR; Khan AT; Lange L; Lee J; Lemaitre RN; Martin LW; Metcalf G; Montasser ME; Moon J-Y; Muzny D; O'Connell JR; Palmer ND; Peralta JM; Peyser PA; Stilp AM; Tsai M; Wang FF; Weeks DE; Yanek LR; Wilson JG; Abecasis G; Arnett DK; Becker LC; Blangero J; Boerwinkle E; Bowden DW; Chang Y-C; Chen Y-DI; Choi WJ; Correa A; Curran JE; Daly MJ; Dutcher SK; Ellinor PT; Fornage M; Freedman BI; Gabriel S; Germer S; Gibbs RA; He J; Hveem K; Jarvik GP; Kaplan RC; Kardia SLR; Kenny E; Kim RW; Kooperberg C; Laurie CC; Lee S; Lloyd-Jones DM; Loos RJF; Lubitz SA; Mathias RA; Martinez KAV; McGarvey ST; Mitchell BD; Nickerson DA; North KE; Palotie A; Park CJ; Psaty BM; Rao DC; Redline S; Reiner AP; Seo D; Seo J-S; Smith AV; Tracy RP; Vasan RS; Kathiresan S; Cupples LA; Rotter JI; Morrison AC; Rich SS; Ripatti S; Willer C; NHLBI Trans-Omics for Precision Medicine (TOPMed) ; FinnGen; Peloso GM
Article: BRITISH JOURNAL OF CANCER. 2021;124(6):1169-1174

Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis.

Culliford R; Cornish AJ; Law PJ; Farrington SM; Palin K; Jenkins MA; Casey G; Hoffmeister M; Brenner H; Chang-Claude J; Kirac I; Maughan T; Brezina S; Gsur A; Cheadle JP; Aaltonen LA; Dunlop MG; Houlston RS
Article: SCIENTIFIC REPORTS. 2020;10(1):22436

Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer.

Rendo V; Kundu S; Rameika N; Ljungström V; Svensson R; Palin K; Aaltonen L; Stoimenov I; Sjöblom T
Article: CANCERS. 2020;12(8):E2018-2018

Prognostic Value of Immune Environment Analysis in Small Bowel Adenocarcinomas with Verified Mutational Landscape and Predisposing Conditions.

Wirta E-V; Szeto S; Hänninen U; Ahtiainen M; Böhm J; Mecklin J-P; Aaltonen LA; Seppälä TT
Article: NATURE MEDICINE. 2020;26(7):1063-1069

Colibactin DNA-damage signature indicates mutational impact in colorectal cancer.

Dziubańska-Kusibab PJ; Berger H; Battistini F; Bouwman BAM; Iftekhar A; Katainen R; Cajuso T; Crosetto N; Orozco M; Aaltonen LA; Meyer TF
Article: NATURE. 2020;578(7793):82-93

Pan-cancer analysis of whole genomes.

ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Con
Article: PLOS GENETICS. 2020;16(2):e1008572

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Fang H; Barbour JA; Poulos RC; Katainen R; Aaltonen LA; Wong JWH
Article: LANCET GASTROENTEROLOGY & HEPATOLOGY. 2020;5(1):55-62

Modifiable pathways for colorectal cancer: a mendelian randomisation analysis.

Cornish AJ; Law PJ; Timofeeva M; Palin K; Farrington SM; Palles C; Jenkins MA; Casey G; Brenner H; Chang-Claude J; Hoffmeister M; Kirac I; Maughan T; Brezina S; Gsur A; Cheadle JP; Aaltonen LA; Tomlinson I; Dunlop MG; Houlston RS
Article: MOLECULAR CANCER RESEARCH. 2019;17(12):2432-2443

Genetic and Epigenetic Characterization of Growth Hormone-Secreting Pituitary Tumors.

Välimäki N; Schalin-Jäntti C; Karppinen A; Paetau A; Kivipelto L; Aaltonen LA; Karhu A
Article: OPEN FORUM INFECTIOUS DISEASES. 2019;6(10):ofz337

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.

Rinne SJ; Sipilä LJ; Sulo P; Jouanguy E; Béziat V; Abel L; Casanova J-L; Parvaneh N; Balighi K; Guttman-Yassky E; Sarid R; Aaltonen LA; Aavikko M
Article: GENETICS IN MEDICINE. 2019;21(10):2355-2363

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Rahikkala E; Myllykoski M; Hinttala R; Vieira P; Nayebzadeh N; Weiss S; Plomp AS; Bittner RE; Kurki MI; Kuismin O; Lewis AM; Väisänen M-L; Kokkonen H; Westermann J; Bernert G; Tuominen H; Palotie A; Aaltonen L; Yang Y; Potocki L; Moilanen J; van Koningsbruggen S; Wang X; Schmidt WM; Koivunen P; Uusimaa J
Article: NATURE COMMUNICATIONS. 2019;10(1):4329

Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Tabassum R; Rämö JT; Ripatti P; Koskela JT; Kurki M; Karjalainen J; Palta P; Hassan S; Nunez-Fontarnau J; Kiiskinen TTJ; Söderlund S; Matikainen N; Gerl MJ; Surma MA; Klose C; Stitziel NO; Laivuori H; Havulinna AS; Service SK; Salomaa V; Pirinen M; FinnGen Project; Jauhiainen M; Daly MJ; Freimer NB; Palotie A; Taskinen M-R; Simons K; Ripatti S
Article: NATURE COMMUNICATIONS. 2019;10(1):4022

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival.

Cajuso T; Sulo P; Tanskanen T; Katainen R; Taira A; Hänninen UA; Kondelin J; Forsström L; Välimäki N; Aavikko M; Kaasinen E; Ristimäki A; Koskensalo S; Lepistö A; Renkonen-Sinisalo L; Seppälä T; Kuopio T; Böhm J; Mecklin J-P; Kilpivaara O; Pitkänen E; Palin K; Aaltonen LA
Article: NATURE COMMUNICATIONS. 2019;10(1):2154

Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

Law PJ; Timofeeva M; Fernandez-Rozadilla C; Broderick P; Studd J; Fernandez-Tajes J; Farrington S; Svinti V; Palles C; Orlando G; Sud A; Holroyd A; Penegar S; Theodoratou E; Vaughan-Shaw P; Campbell H; Zgaga L; Hayward C; Campbell A; Harris S; Deary IJ; Starr J; Gatcombe L; Pinna M; Briggs S; Martin L; Jaeger E; Sharma-Oates A; East J; Leedham S; Arnold R; Johnstone E; Wang H; Kerr D; Kerr R; Maughan T; Kaplan R; Al-Tassan N; Palin K; Hänninen UA; Cajuso T; Tanskanen T; Kondelin J; Kaasinen E; Sarin A-P; Eriksson JG; Rissanen H; Knekt P; Pukkala E; Jousilahti P; Salomaa V; Ripatti S; Palotie A; Renkonen-Sinisalo L; Lepistö A; Böhm J; Mecklin J-P; Buchanan DD; Win A-K; Hopper J; Jenkins ME; Lindor NM; Newcomb PA; Gallinger S; Duggan D; Casey G; Hoffmann P; Nöthen MM; Jöckel K-H; Easton DF; Pharoah PDP; Peto J; Canzian F; Swerdlow A; Eeles RA; Kote-Jarai Z; Muir K; Pashayan N; PRACTICAL consortium; Harkin A; Allan K; McQueen J; Paul J; Iveson T; Saunders M; Butterbach K; Chang-Claude J; Hoffmeister M; Brenner H; Kirac I; Matošević P; Hofer P; Brezina S; Gsur A; Cheadle JP; Aaltonen LA; Tomlinson I; Houlston RS; Dunlop MG
Article: BRITISH JOURNAL OF CANCER. 2019;120(9):922-930

Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers.

Hänninen UA; Wirta E-V; Katainen R; Tanskanen T; Hamberg J; Taipale M; Böhm J; Renkonen-Sinisalo L; Lepistö A; Forsström LM; Pitkänen E; Palin K; Seppälä TT; Mäkinen N; Mecklin J-P; Aaltonen LA
Article: NATURE COMMUNICATIONS. 2019;10(1):1252

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Kaasinen E; Kuismin O; Rajamäki K; Ristolainen H; Aavikko M; Kondelin J; Saarinen S; Berta DG; Katainen R; Hirvonen EAM; Karhu A; Taira A; Tanskanen T; Alkodsi A; Taipale M; Morgunova E; Franssila K; Lehtonen R; Mäkinen M; Aittomäki K; Palotie A; Kurki MI; Pietiläinen O; Hilpert M; Saarentaus E; Niinimäki J; Junttila J; Kaikkonen K; Vahteristo P; Skoda RC; Seppänen MRJ; Eklund KK; Taipale J; Kilpivaara O; Aaltonen LA
Article: FAMILIAL CANCER. 2019;18(1):113-119

Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma.

Donner I; Katainen R; Kaasinen E; Aavikko M; Sipilä LJ; Pukkala E; Aaltonen LA
Article: NATURE PROTOCOLS. 2018;13(11):2580-2600

Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer.

Katainen R; Donner I; Cajuso T; Kaasinen E; Palin K; Mäkinen V; Aaltonen LA; Pitkänen E
Article: ELIFE. 2018;7:e37110

Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability.

Välimäki N; Kuisma H; Pasanen A; Heikinheimo O; Sjöberg J; Bützow R; Sarvilinna N; Heinonen H-R; Tolvanen J; Bramante S; Tanskanen T; Auvinen J; Uimari O; Alkodsi A; Lehtonen R; Kaasinen E; Palin K; Aaltonen LA
Article: NATURE COMMUNICATIONS. 2018;9(1):3664

Contribution of allelic imbalance to colorectal cancer.

Palin K; Pitkänen E; Turunen M; Sahu B; Pihlajamaa P; Kivioja T; Kaasinen E; Välimäki N; Hänninen UA; Cajuso T; Aavikko M; Tuupanen S; Kilpivaara O; van den Berg L; Kondelin J; Tanskanen T; Katainen R; Grau M; Rauanheimo H; Plaketti R-M; Taira A; Sulo P; Hartonen T; Dave K; Schmierer B; Botla S; Sokolova M; Vähärautio A; Gladysz K; Ongen H; Dermitzakis E; Bramsen JB; Ørntoft TF; Andersen CL; Ristimäki A; Lepistö A; Renkonen-Sinisalo L; Mecklin J-P; Taipale J; Aaltonen LA
Article: EMBO MOLECULAR MEDICINE. 2018;10(9):e8552

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J; Salokas K; Saarinen L; Ovaska K; Rauanheimo H; Plaketti R-M; Hamberg J; Liu X; Yadav L; Gylfe AE; Cajuso T; Hänninen UA; Palin K; Ristolainen H; Katainen R; Kaasinen E; Tanskanen T; Aavikko M; Taipale M; Taipale J; Renkonen-Sinisalo L; Lepistö A; Koskensalo S; Böhm J; Mecklin J-P; Ongen H; Dermitzakis ET; Kilpivaara O; Vahteristo P; Turunen M; Hautaniemi S; Tuupanen S; Karhu A; Välimäki N; Varjosalo M; Pitkänen E; Aaltonen LA
Article: LUNG CANCER. 2018;122:76-82

Germline mutations in young non-smoking women with lung adenocarcinoma.

Donner I; Katainen R; Sipilä LJ; Aavikko M; Pukkala E; Aaltonen LA
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2018;293(13):4870-4882

Oncogenic exon 2 mutations in Mediator subunit MED12 disrupt allosteric activation of cyclin C-CDK8/19.

Park MJ; Shen H; Spaeth JM; Tolvanen JH; Failor C; Knudtson JF; McLaughlin J; Halder SK; Yang Q; Bulun SE; Al-Hendy A; Schenken RS; Aaltonen LA; Boyer TG
Article: PLOS GENETICS. 2018;14(3):e1007200

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA; Katainen R; Tanskanen T; Plaketti R-M; Laine R; Hamberg J; Ristimäki A; Pukkala E; Taipale M; Mecklin J-P; Forsström LM; Pitkänen E; Palin K; Välimäki N; Mäkinen N; Aaltonen LA
Article: INTERNATIONAL JOURNAL OF CANCER. 2018;142(3):540-546

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

Tanskanen T; van den Berg L; Välimäki N; Aavikko M; Ness-Jensen E; Hveem K; Wettergren Y; Bexe Lindskog E; Tõnisson N; Metspalu A; Silander K; Orlando G; Law PJ; Tuupanen S; Gylfe AE; Hänninen UA; Cajuso T; Kondelin J; Sarin A-P; Pukkala E; Jousilahti P; Salomaa V; Ripatti S; Palotie A; Järvinen H; Renkonen-Sinisalo L; Lepistö A; Böhm J; Mecklin J-P; Al-Tassan NA; Palles C; Martin L; Barclay E; Tenesa A; Farrington SM; Timofeeva MN; Meyer BF; Wakil SM; Campbell H; Smith CG; Idziaszczyk S; Maughan TS; Kaplan R; Kerr R; Kerr D; Buchanan DD; Win AK; Hopper J; Jenkins MA; Newcomb PA; Gallinger S; Conti D; Schumacher FR; Casey G; Cheadle JP; Dunlop MG; Tomlinson IP; Houlston RS; Palin K; Aaltonen LA
Article: BRITISH JOURNAL OF CANCER. 2017;117(12):1855-1864

Global metabolomic profiling of uterine leiomyomas.

Heinonen H-R; Mehine M; Mäkinen N; Pasanen A; Pitkänen E; Karhu A; Sarvilinna NS; Sjöberg J; Heikinheimo O; Bützow R; Aaltonen LA; Kaasinen E
Article: BMC MUSCULOSKELETAL DISORDERS. 2017;18(1):477

A tailored counseling and home-based rehabilitation program to increase physical activity and improve mobility among community-dwelling older people after hospitalization: protocol of a randomized controlled trial.

Turunen K; Aaltonen L; Kumpumäki J; Portegijs E; Keikkala S; Kinnunen M-L; Finni T; Sipilä S; Nikander R
Article: SCIENTIFIC REPORTS. 2017;7(1):14521

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing.

Pradhan B; Cajuso T; Katainen R; Sulo P; Tanskanen T; Kilpivaara O; Pitkänen E; Aaltonen LA; Kauppi L; Palin K
Article: EUROPEAN JOURNAL OF CANCER. 2017;84:228-238

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis.

May-Wilson S; Sud A; Law PJ; Palin K; Tuupanen S; Gylfe A; Hänninen UA; Cajuso T; Tanskanen T; Kondelin J; Kaasinen E; Sarin A-P; Eriksson JG; Rissanen H; Knekt P; Pukkala E; Jousilahti P; Salomaa V; Ripatti S; Palotie A; Renkonen-Sinisalo L; Lepistö A; Böhm J; Mecklin J-P; Al-Tassan NA; Palles C; Farrington SM; Timofeeva MN; Meyer BF; Wakil SM; Campbell H; Smith CG; Idziaszczyk S; Maughan TS; Fisher D; Kerr R; Kerr D; Passarelli MN; Figueiredo JC; Buchanan DD; Win AK; Hopper JL; Jenkins MA; Lindor NM; Newcomb PA; Gallinger S; Conti D; Schumacher F; Casey G; Aaltonen LA; Cheadle JP; Tomlinson IP; Dunlop MG; Houlston RS
Article: JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 2017;76(10):848-853

Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.

Forsström LM; Sumi K; Mäkinen MJ; Oh JE; Herva R; Kleihues P; Ohgaki H; Aaltonen LA
Article: CANCER RESEARCH. 2017;77(15):4078-4088

Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer.

Kondelin J; Gylfe AE; Lundgren S; Tanskanen T; Hamberg J; Aavikko M; Palin K; Ristolainen H; Katainen R; Kaasinen E; Taipale M; Taipale J; Renkonen-Sinisalo L; Järvinen H; Böhm J; Mecklin J-P; Vahteristo P; Tuupanen S; Aaltonen LA; Pitkänen E
Article: INTERNATIONAL JOURNAL OF CANCER. 2017;140(12):2701-2708

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.

Rodriguez-Broadbent H; Law PJ; Sud A; Palin K; Tuupanen S; Gylfe A; Hänninen UA; Cajuso T; Tanskanen T; Kondelin J; Kaasinen E; Sarin A-P; Ripatti S; Eriksson JG; Rissanen H; Knekt P; Pukkala E; Jousilahti P; Salomaa V; Palotie A; Renkonen-Sinisalo L; Lepistö A; Böhm J; Mecklin J-P; Al-Tassan NA; Palles C; Martin L; Barclay E; Farrington SM; Timofeeva MN; Meyer BF; Wakil SM; Campbell H; Smith CG; Idziaszczyk S; Maughan TS; Kaplan R; Kerr R; Kerr D; Passarelli MN; Figueiredo JC; Buchanan DD; Win AK; Hopper JL; Jenkins MA; Lindor NM; Newcomb PA; Gallinger S; Conti D; Schumacher F; Casey G; Aaltonen LA; Cheadle JP; Tomlinson IP; Dunlop MG; Houlston RS
Article: GENES CHROMOSOMES & CANCER. 2017;56(6):453-459

Candidate susceptibility variants for esophageal squamous cell carcinoma.

Donner I; Katainen R; Tanskanen T; Kaasinen E; Aavikko M; Ovaska K; Artama M; Pukkala E; Aaltonen LA
Article: SCIENTIFIC REPORTS. 2017;7(1):1015

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Heinonen H-R; Pasanen A; Heikinheimo O; Tanskanen T; Palin K; Tolvanen J; Vahteristo P; Sjöberg J; Pitkänen E; Bützow R; Mäkinen N; Aaltonen LA
Article: HUMAN GENOMICS. 2017;11(1):6

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Hirvonen EAM; Pitkänen E; Hemminki K; Aaltonen LA; Kilpivaara O
Article: PLOS ONE. 2017;12(4):e0174898

Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei.

Saarinen L; Nummela P; Thiel A; Lehtonen R; Järvinen P; Järvinen H; Aaltonen LA; Lepistö A; Hautaniemi S; Ristimäki A
Article: BRITISH JOURNAL OF CANCER. 2016;115(2):266-272

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer.

Jarvis D; Mitchell JS; Law PJ; Palin K; Tuupanen S; Gylfe A; Hänninen UA; Cajuso T; Tanskanen T; Kondelin J; Kaasinen E; Sarin A-P; Kaprio J; Eriksson JG; Rissanen H; Knekt P; Pukkala E; Jousilahti P; Salomaa V; Ripatti S; Palotie A; Järvinen H; Renkonen-Sinisalo L; Lepistö A; Böhm J; Meklin J-P; Al-Tassan NA; Palles C; Martin L; Barclay E; Farrington SM; Timofeeva MN; Meyer BF; Wakil SM; Campbell H; Smith CG; Idziaszczyk S; Maughan TS; Kaplan R; Kerr R; Kerr D; Buchanan DD; Win AK; Hopper JL; Jenkins MA; Lindor NM; Newcomb PA; Gallinger S; Conti D; Schumacher F; Casey G; Taipale J; Aaltonen LA; Cheadle JP; Dunlop MG; Tomlinson IP; Houlston RS
Article: BRITISH JOURNAL OF CANCER. 2016;114(12):1405-1411

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Kämpjärvi K; Mäkinen N; Mehine M; Välipakka S; Uimari O; Pitkänen E; Heinonen H-R; Heikkinen T; Tolvanen J; Ahtikoski A; Frizzell N; Sarvilinna N; Sjöberg J; Bützow R; Aaltonen LA; Vahteristo P
Article: HUMAN MOLECULAR GENETICS. 2016;25(11):2349-2359

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.

Orlando G; Law PJ; Palin K; Tuupanen S; Gylfe A; Hänninen UA; Cajuso T; Tanskanen T; Kondelin J; Kaasinen E; Sarin A-P; Kaprio J; Eriksson JG; Rissanen H; Knekt P; Pukkala E; Jousilahti P; Salomaa V; Ripatti S; Palotie A; Järvinen H; Renkonen-Sinisalo L; Lepistö A; Böhm J; Mecklin J-P; Al-Tassan NA; Palles C; Martin L; Barclay E; Tenesa A; Farrington S; Timofeeva MN; Meyer BF; Wakil SM; Campbell H; Smith CG; Idziaszczyk S; Maughan TS; Kaplan R; Kerr R; Kerr D; Buchanan DD; Win AK; Hopper J; Jenkins M; Lindor NM; Newcomb PA; Gallinger S; Conti D; Schumacher F; Casey G; Taipale J; Cheadle JP; Dunlop MG; Tomlinson IP; Aaltonen LA; Houlston RS
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2016;113(5):1315-1320

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.

Mehine M; Kaasinen E; Heinonen H-R; Mäkinen N; Kämpjärvi K; Sarvilinna N; Aavikko M; Vähärautio A; Pasanen A; Bützow R; Heikinheimo O; Sjöberg J; Pitkänen E; Vahteristo P; Aaltonen LA
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2015;100(10):3918-3927

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.

Välimäki N; Demir H; Pitkänen E; Kaasinen E; Karppinen A; Kivipelto L; Schalin-Jäntti C; Aaltonen LA; Karhu A
Article: FAMILIAL CANCER. 2015;14(3):449-453

3'-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity.

Kondelin J; Tuupanen S; Gylfe AE; Aavikko M; Renkonen-Sinisalo L; Järvinen H; Böhm J; Mecklin J-P; Andersen CL; Vahteristo P; Pitkänen E; Aaltonen LA
Article: HUMAN MOLECULAR GENETICS. 2015;24(15):4407-4416

Clonally related uterine leiomyomas are common and display branched tumor evolution.

Mehine M; Heinonen H-R; Sarvilinna N; Pitkänen E; Mäkinen N; Katainen R; Tuupanen S; Bützow R; Sjöberg J; Aaltonen LA
Article: NATURE GENETICS. 2015;47(7):818-821

CTCF/cohesin-binding sites are frequently mutated in cancer.

Katainen R; Dave K; Pitkänen E; Palin K; Kivioja T; Välimäki N; Gylfe AE; Ristolainen H; Hänninen UA; Cajuso T; Kondelin J; Tanskanen T; Mecklin J-P; Järvinen H; Renkonen-Sinisalo L; Lepistö A; Kaasinen E; Kilpivaara O; Tuupanen S; Enge M; Taipale J; Aaltonen LA
Article: FAMILIAL CANCER. 2015;14(2):241-246

Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer.

Donner I; Kiviluoto T; Ristimäki A; Aaltonen LA; Vahteristo P
Article: JOURNAL OF INFECTIOUS DISEASES. 2015;211(11):1842-1851

Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma.

Aavikko M; Kaasinen E; Nieminen JK; Byun M; Donner I; Mancuso R; Ferrante P; Clerici M; Brambilla L; Tourlaki A; Sarid R; Guttman-Yassky E; Taipale M; Morgunova E; Pekkonen P; Ojala PM; Pukkala E; Casanova J-L; Vaarala O; Vahteristo P; Aaltonen LA
Article: INTERNATIONAL JOURNAL OF CANCER. 2015;136(5):E282-E289

Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry.

Nummela P; Saarinen L; Thiel A; Järvinen P; Lehtonen R; Lepistö A; Järvinen H; Aaltonen LA; Hautaniemi S; Ristimäki A
Article: CANCER GENETICS. 2015;208(1-2):35-U100

Systematic search for rare variants in Finnish early-onset colorectal cancer patients.

Tanskanen T; Gylfe AE; Katainen R; Taipale M; Renkonen-Sinisalo L; Järvinen H; Mecklin J-P; Böhm J; Kilpivaara O; Pitkänen E; Palin K; Vahteristo P; Tuupanen S; Aaltonen LA
Article: HUMAN MUTATION. 2014;35(12):1514-1523

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

Ferreira AM; Tuominen I; Sousa S; Gerbens F; van Dijk-Bos K; Osinga J; Kooi KA; Sanjabi B; Esendam C; Oliveira C; Terpstra P; Hardonk M; van der Sluis T; Zazula M; Stachura J; van der Zee AG; Hollema H; Sijmons RH; Aaltonen LA; Seruca R; Hofstra RMW; Westers H
Article: HUMAN MUTATION. 2014;35(12):1442-1445

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

Ferreira AM; Tuominen I; van Dijk-Bos K; Sanjabi B; van der Sluis T; van der Zee AG; Hollema H; Zazula M; Sijmons RH; Aaltonen LA; Westers H; Hofstra RMW
Article: BRITISH JOURNAL OF CANCER. 2014;111(8):1657-1662

Identification of 33 candidate oncogenes by screening for base-specific mutations.

Tuupanen S; Hänninen UA; Kondelin J; von Nandelstadh P; Cajuso T; Gylfe AE; Katainen R; Tanskanen T; Ristolainen H; Böhm J; Mecklin J-P; Järvinen H; Renkonen-Sinisalo L; Andersen CL; Taipale M; Taipale J; Vahteristo P; Lehti K; Pitkänen E; Aaltonen LA
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2014;57(10):543-551

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Kaasinen E; Rahikkala E; Koivunen P; Miettinen S; Wamelink MMC; Aavikko M; Palin K; Myllyharju J; Moilanen JS; Pajunen L; Karhu A; Aaltonen LA
Article: FERTILITY AND STERILITY. 2014;102(4):1137-1142

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

Heinonen H-R; Sarvilinna NS; Sjöberg J; Kämpjärvi K; Pitkänen E; Vahteristo P; Mäkinen N; Aaltonen LA
Article: ONCOTARGET. 2014;5(18):8223-8234

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

Knappskog S; Gansmo LB; Dibirova K; Metspalu A; Cybulski C; Peterlongo P; Aaltonen L; Vatten L; Romundstad P; Hveem K; Devilee P; Evans GD; Lin D; Van Camp G; Manolopoulos VG; Osorio A; Milani L; Ozcelik T; Zalloua P; Mouzaya F; Bliznetz E; Balanovska E; Pocheshkova E; Kučinskas V; Atramentova L; Nymadawa P; Titov K; Lavryashina M; Yusupov Y; Bogdanova N; Koshel S; Zamora J; Wedge DC; Charlesworth D; Dörk T; Balanovsky O; Lønning PE
Article: FERTILITY AND STERILITY. 2014;102(3):621-629

Genomics of uterine leiomyomas: insights from high-throughput sequencing.

Mehine M; Mäkinen N; Heinonen H-R; Aaltonen LA; Vahteristo P
Article: CELL REPORTS. 2014;7(3):654-660

Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.

Turunen M; Spaeth JM; Keskitalo S; Park MJ; Kivioja T; Clark AD; Mäkinen N; Gao F; Palin K; Nurkkala H; Vähärautio A; Aavikko M; Kämpjärvi K; Vahteristo P; Kim CA; Aaltonen LA; Varjosalo M; Taipale J; Boyer TG
Article: BRITISH JOURNAL OF CANCER. 2014;110(9):2246-2249

Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas.

Mäkinen N; Heinonen H-R; Sjöberg J; Taipale J; Vahteristo P; Aaltonen LA
Article: ONCOTARGET. 2014;5(3):853-859

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer.

Pitkänen E; Cajuso T; Katainen R; Kaasinen E; Välimäki N; Palin K; Taipale J; Aaltonen LA; Kilpivaara O
Article: INTERNATIONAL JOURNAL OF CANCER. 2014;134(4):1008-1012

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas.

Mäkinen N; Vahteristo P; Bützow R; Sjöberg J; Aaltonen LA
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(11):1300-1303

MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

Mäkinen N; Vahteristo P; Kämpjärvi K; Arola J; Bützow R; Aaltonen LA
Article: GASTROENTEROLOGY. 2013;145(3):540-3.e22

Identification of candidate oncogenes in human colorectal cancers with microsatellite instability.

Gylfe AE; Kondelin J; Turunen M; Ristolainen H; Katainen R; Pitkänen E; Kaasinen E; Rantanen V; Tanskanen T; Varjosalo M; Lehtonen H; Palin K; Taipale M; Taipale J; Renkonen-Sinisalo L; Järvinen H; Böhm J; Mecklin J-P; Ristimäki A; Kilpivaara O; Tuupanen S; Karhu A; Vahteristo P; Aaltonen LA
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2013;369(1):43-53

Characterization of uterine leiomyomas by whole-genome sequencing.

Mehine M; Kaasinen E; Mäkinen N; Katainen R; Kämpjärvi K; Pitkänen E; Heinonen H-R; Bützow R; Kilpivaara O; Kuosmanen A; Ristolainen H; Gentile M; Sjöberg J; Vahteristo P; Aaltonen LA
Article: GASTROENTEROLOGY. 2013;144(7):1402-1409.e5

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

Ngeow J; Heald B; Rybicki LA; Orloff MS; Chen JL; Liu X; Yerian L; Willis J; Lehtonen HJ; Lehtonen R; Mester JL; Moline J; Burke CA; Church J; Aaltonen LA; Eng C
Article: GUT. 2013;62(6):871-881

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.

Dunlop MG; Tenesa A; Farrington SM; Ballereau S; Brewster DH; Koessler T; Pharoah P; Schafmayer C; Hampe J; Völzke H; Chang-Claude J; Hoffmeister M; Brenner H; von Holst S; Picelli S; Lindblom A; Jenkins MA; Hopper JL; Casey G; Duggan D; Newcomb PA; Abulí A; Bessa X; Ruiz-Ponte C; Castellví-Bel S; Niittymäki I; Tuupanen S; Karhu A; Aaltonen L; Zanke B; Hudson T; Gallinger S; Barclay E; Martin L; Gorman M; Carvajal-Carmona L; Walther A; Kerr D; Lubbe S; Broderick P; Chandler I; Pittman A; Penegar S; Campbell H; Tomlinson I; Houlston RS
Article: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2013;48(6):672-678

Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.

Tanskanen T; Gylfe AE; Katainen R; Taipale M; Renkonen-Sinisalo L; Mecklin J-P; Järvinen H; Tuupanen S; Kilpivaara O; Vahteristo P; Aaltonen LA
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(5):1096-1100

Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.

Raizis AM; Van Mater D; Aaltonen LA; Lohmann D; Cheale MS; Bickley VM; George PM; Zhou Y; Rosoff PM
Article: BLOOD. 2013;121(17):3428-3430

Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

Saarinen S; Kaasinen E; Karjalainen-Lindsberg M-L; Vesanen K; Aavikko M; Katainen R; Taskinen M; Kytölä S; Leppä S; Hietala M; Vahteristo P; Aaltonen LA
Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2013;22(3):452-460

HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk.

Laitinen VH; Wahlfors T; Saaristo L; Rantapero T; Pelttari LM; Kilpivaara O; Laasanen S-L; Kallioniemi A; Nevanlinna H; Aaltonen L; Vessella RL; Auvinen A; Visakorpi T; Tammela TLJ; Schleutker J
Article: JOURNAL OF CLINICAL ONCOLOGY. 2013;31(7):938-943

High familial risk in nodular lymphocyte-predominant Hodgkin lymphoma.

Saarinen S; Pukkala E; Vahteristo P; Mäkinen MJ; Franssila K; Aaltonen LA
Article: PLOS GENETICS. 2013;9(10):e1003876

Eleven candidate susceptibility genes for common familial colorectal cancer.

Gylfe AE; Katainen R; Kondelin J; Tanskanen T; Cajuso T; Hänninen U; Taipale J; Taipale M; Renkonen-Sinisalo L; Järvinen H; Mecklin J-P; Kilpivaara O; Pitkänen E; Vahteristo P; Tuupanen S; Karhu A; Aaltonen LA
Article: PLOS ONE. 2013;8(1):e55209

Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

Kaasinen E; Aavikko M; Vahteristo P; Patama T; Li Y; Saarinen S; Kilpivaara O; Pitkänen E; Knekt P; Laaksonen M; Artama M; Lehtonen R; Aaltonen LA; Pukkala E
Article: SCIENCE. 2012;338(6112):1360-1363

Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors.

Sur IK; Hallikas O; Vähärautio A; Yan J; Turunen M; Enge M; Taipale M; Karhu A; Aaltonen LA; Taipale J
Article: GASTROENTEROLOGY. 2012;143(6):1482-1491.e3

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

Lehtonen HJ; Sipponen T; Tojkander S; Karikoski R; Järvinen H; Laing NG; Lappalainen P; Aaltonen LA; Tuupanen S
Article: BMC CANCER. 2012;12:552

Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.

Pelttari LM; Nurminen R; Gylfe A; Aaltonen LA; Schleutker J; Nevanlinna H
Article: BRITISH JOURNAL OF CANCER. 2012;107(10):1761-1765

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.

Kämpjärvi K; Mäkinen N; Kilpivaara O; Arola J; Heinonen H-R; Böhm J; Abdel-Wahab O; Lehtonen HJ; Pelttari LM; Mehine M; Schrewe H; Nevanlinna H; Levine RL; Hokland P; Böhling T; Mecklin J-P; Bützow R; Aaltonen LA; Vahteristo P
Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 2012;308(15):1555-1565

Identification of Lynch syndrome among patients with colorectal cancer.

Moreira L; Balaguer F; Lindor N; de la Chapelle A; Hampel H; Aaltonen LA; Hopper JL; Le Marchand L; Gallinger S; Newcomb PA; Haile R; Thibodeau SN; Gunawardena S; Jenkins MA; Buchanan DD; Potter JD; Baron JA; Ahnen DJ; Moreno V; Andreu M; Ponz de Leon M; Rustgi AK; Castells A; EPICOLON Consortium
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2012;91(3):520-526

Loss of SUFU function in familial multiple meningioma.

Aavikko M; Li S-P; Saarinen S; Alhopuro P; Kaasinen E; Morgunova E; Li Y; Vesanen K; Smith MJ; Evans DGR; Pöyhönen M; Kiuru A; Auvinen A; Aaltonen LA; Taipale J; Vahteristo P
Article: FAMILIAL CANCER. 2012;11(3):525-528

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

Saarinen S; Vahteristo P; Lehtonen R; Aittomäki K; Launonen V; Kiviluoto T; Aaltonen LA
Article: AFRICAN JOURNAL OF MEDICINE AND MEDICAL SCIENCES. 2012;41(3):271-275

delGA (rs67491583) variant and colorectal cancer risk in an indigenous African population.

Ogundiran T; Tuupanen S; Aaltonen LA; Akarolo-Anthony S; Adebamowo C
Article: JOURNAL OF MEDICAL GENETICS. 2012;49(7):429-432

A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.

Pelttari LM; Kiiski J; Nurminen R; Kallioniemi A; Schleutker J; Gylfe A; Aaltonen LA; Leminen A; Heikkilä P; Blomqvist C; Bützow R; Aittomäki K; Nevanlinna H
Article: HUMAN REPRODUCTION. 2012;27(6):1865-1869

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.

Tolvanen J; Uimari O; Ryynänen M; Aaltonen LA; Vahteristo P
Article: NATURE GENETICS. 2012;44(7):770-U197

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

Dunlop MG; Dobbins SE; Farrington SM; Jones AM; Palles C; Whiffin N; Tenesa A; Spain S; Broderick P; Ooi L-Y; Domingo E; Smillie C; Henrion M; Frampton M; Martin L; Grimes G; Gorman M; Semple C; Ma YP; Barclay E; Prendergast J; Cazier J-B; Olver B; Penegar S; Lubbe S; Chander I; Carvajal-Carmona LG; Ballereau S; Lloyd A; Vijayakrishnan J; Zgaga L; Rudan I; Theodoratou E; Colorectal Tumour Gene Identification (CORGI) Cons; Starr JM; Deary I; Kirac I; Kovacević D; Aaltonen LA; Renkonen-Sinisalo L; Mecklin J-P; Matsuda K; Nakamura Y; Okada Y; Gallinger S; Duggan DJ; Conti D; Newcomb P; Hopper J; Jenkins MA; Schumacher F; Casey G; Easton D; Shah M; Pharoah P; Lindblom A; Liu T; Swedish Low-Risk Colorectal Cancer Study Group; Smith CG; West H; Cheadle JP; COIN Collaborative Group; Midgley R; Kerr DJ; Campbell H; Tomlinson IP; Houlston RS
Article: AMERICAN JOURNAL OF PATHOLOGY. 2012;180(4):1509-1521

Villin expression is frequently lost in poorly differentiated colon cancer.

Arango D; Al-Obaidi S; Williams DS; Dopeso H; Mazzolini R; Corner G; Byun D-S; Carr AA; Murone C; Tögel L; Zeps N; Aaltonen LA; Iacopetta B; Mariadason JM
Article: INTERNATIONAL JOURNAL OF CANCER. 2012;130(7):1558-1566

Candidate driver genes in microsatellite-unstable colorectal cancer.

Alhopuro P; Sammalkorpi H; Niittymäki I; Biström M; Raitila A; Saharinen J; Nousiainen K; Lehtonen HJ; Heliövaara E; Puhakka J; Tuupanen S; Sousa S; Seruca R; Ferreira AM; Hofstra RMW; Mecklin J-P; Järvinen H; Ristimäki A; Orntoft TF; Hautaniemi S; Arango D; Karhu A; Aaltonen LA
Article: GENOME MEDICINE. 2012;4(3):21

Rule-based induction method for haplotype comparison and identification of candidate disease loci.

Karinen S; Saarinen S; Lehtonen R; Rastas P; Vahteristo P; Aaltonen LA; Hautaniemi S
Article: HUMAN MOLECULAR GENETICS. 2012;21(4):934-946

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13.

Spain SL; Carvajal-Carmona LG; Howarth KM; Jones AM; Su Z; Cazier J-B; Williams J; Aaltonen LA; Pharoah P; Kerr DJ; Cheadle J; Li L; Casey G; Vodicka P; Sieber O; Lipton L; Gibbs P; Martin NG; Montgomery GW; Young J; Baird PN; Morreau H; van Wezel T; Ruiz-Ponte C; Fernandez-Rozadilla C; Carracedo A; Castells A; Castellvi-Bel S; Dunlop M; Houlston RS; Tomlinson IPM
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2012;109(5):1530-1535

Brush border myosin Ia has tumor suppressor activity in the intestine.

Mazzolini R; Dopeso H; Mateo-Lozano S; Chang W; Rodrigues P; Bazzocco S; Alazzouzi H; Landolfi S; Hernández-Losa J; Andretta E; Alhopuro P; Espín E; Armengol M; Tabernero J; Ramón y Cajal S; Kloor M; Gebert J; Mariadason JM; Schwartz S; Aaltonen LA; Mooseker MS; Arango D
Article: CANCER GENETICS. 2012;205(1-2):25-33

Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.

Tuupanen S; Yan J; Turunen M; Gylfe AE; Kaasinen E; Li L; Eng C; Culver DA; Kalady MF; Pennison MJ; Pasche B; Manne U; de la Chapelle A; Hampel H; Henderson BE; Marchand LL; Hautaniemi S; Askhtorab H; Smoot D; Sandler RS; Keku T; Kupfer SS; Ellis NA; Haiman CA; Taipale J; Aaltonen LA
Article: ONCOTARGET. 2011;2(12):966-969

MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.

Mäkinen N; Heinonen H-R; Moore S; Tomlinson IPM; van der Spuy ZM; Aaltonen LA
Article: GASTROENTEROLOGY. 2011;141(6):2039-2046

Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer.

Coissieux M-M; Tomsic J; Castets M; Hampel H; Tuupanen S; Andrieu N; Comeras I; Drouet Y; Lasset C; Liyanarachchi S; Mazelin L; Puisieux A; Saurin J-C; Scoazec J-Y; Wang Q; Aaltonen L; Tanner SM; de la Chapelle A; Bernet A; Mehlen P
Article: SCIENCE. 2011;334(6053):252-255

MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.

Mäkinen N; Mehine M; Tolvanen J; Kaasinen E; Li Y; Lehtonen HJ; Gentile M; Yan J; Enge M; Taipale M; Aavikko M; Katainen R; Virolainen E; Böhling T; Koski TA; Launonen V; Sjöberg J; Taipale J; Vahteristo P; Aaltonen LA
Article: NATURE GENETICS. 2011;43(11):1104-1107

Mutations in BRIP1 confer high risk of ovarian cancer.

Rafnar T; Gudbjartsson DF; Sulem P; Jonasdottir A; Sigurdsson A; Jonasdottir A; Besenbacher S; Lundin P; Stacey SN; Gudmundsson J; Magnusson OT; le Roux L; Orlygsdottir G; Helgadottir HT; Johannsdottir H; Gylfason A; Tryggvadottir L; Jonasson JG; de Juan A; Ortega E; Ramon-Cajal JM; García-Prats MD; Mayordomo C; Panadero A; Rivera F; Aben KKH; van Altena AM; Massuger LFAG; Aavikko M; Kujala PM; Staff S; Aaltonen LA; Olafsdottir K; Bjornsson J; Kong A; Salvarsdottir A; Saemundsson H; Olafsson K; Benediktsdottir KR; Gulcher J; Masson G; Kiemeney LA; Mayordomo JI; Thorsteinsdottir U; Stefansson K
Article: JOURNAL OF PATHOLOGY. 2011;225(1):4-11

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.

Bardella C; El-Bahrawy M; Frizzell N; Adam J; Ternette N; Hatipoglu E; Howarth K; O'Flaherty L; Roberts I; Turner G; Taylor J; Giaslakiotis K; Macaulay VM; Harris AL; Chandra A; Lehtonen HJ; Launonen V; Aaltonen LA; Pugh CW; Mihai R; Trudgian D; Kessler B; Baynes JW; Ratcliffe PJ; Tomlinson IP; Pollard PJ
Article: BLOOD. 2011;118(3):493-498

Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma.

Saarinen S; Aavikko M; Aittomäki K; Launonen V; Lehtonen R; Franssila K; Lehtonen HJ; Kaasinen E; Broderick P; Tarkkanen J; Bain BJ; Bauduer F; Ünal A; Swerdlow AJ; Cooke R; Mäkinen MJ; Houlston R; Vahteristo P; Aaltonen LA
Article: PLOS GENETICS. 2011;7(6):e1002105

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

Tomlinson IPM; Carvajal-Carmona LG; Dobbins SE; Tenesa A; Jones AM; Howarth K; Palles C; Broderick P; Jaeger EEM; Farrington S; Lewis A; Prendergast JGD; Pittman AM; Theodoratou E; Olver B; Walker M; Penegar S; Barclay E; Whiffin N; Martin L; Ballereau S; Lloyd A; Gorman M; Lubbe S; COGENT Consortium; CORGI Collaborators; EPICOLON Consortium; Howie B; Marchini J; Ruiz-Ponte C; Fernandez-Rozadilla C; Castells A; Carracedo A; Castellvi-Bel S; Duggan D; Conti D; Cazier J-B; Campbell H; Sieber O; Lipton L; Gibbs P; Martin NG; Montgomery GW; Young J; Baird PN; Gallinger S; Newcomb P; Hopper J; Jenkins MA; Aaltonen LA; Kerr DJ; Cheadle J; Pharoah P; Casey G; Houlston RS; Dunlop MG
Article: CARCINOGENESIS. 2011;32(3):305-311

High frequency of TTK mutations in microsatellite-unstable colorectal cancer and evaluation of their effect on spindle assembly checkpoint.

Niittymäki I; Gylfe A; Laine L; Laakso M; Lehtonen HJ; Kondelin J; Tolvanen J; Nousiainen K; Pouwels J; Järvinen H; Nuorva K; Mecklin J-P; Mäkinen M; Ristimäki A; Ørntoft TF; Hautaniemi S; Karhu A; Kallio MJ; Aaltonen LA
Article: CANCER CELL. 2011;19(2):273-282

The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians.

Knappskog S; Bjørnslett M; Myklebust LM; Huijts PEA; Vreeswijk MP; Edvardsen H; Guo Y; Zhang X; Yang M; Ylisaukko-Oja SK; Alhopuro P; Arola J; Tollenaar RAEM; van Asperen CJ; Seynaeve C; Staalesen V; Chrisanthar R; Løkkevik E; Salvesen HB; Evans DG; Newman WG; Lin D; Aaltonen LA; Børresen-Dale A-L; Tell GS; Stoltenberg C; Romundstad P; Hveem K; Lillehaug JR; Vatten L; Devilee P; Dørum A; Lønning PE
Article: BMC MEDICAL GENETICS. 2011;12:23

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

Niittymäki I; Tuupanen S; Li Y; Järvinen H; Mecklin J-P; Tomlinson IPM; Houlston RS; Karhu A; Aaltonen LA
Article: VIRCHOWS ARCHIV. 2011;458(2):213-219

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

Stefanius K; Kantola T; Tuomisto A; Vahteristo P; Karttunen TJ; Aaltonen LA; Mäkinen MJ; Karhu A
Article: JOURNAL OF MOLECULAR ENDOCRINOLOGY. 2011;46(1):1-8

No evidence of RET germline mutations in familial pituitary adenoma.

Heliövaara E; Tuupanen S; Ahlsten M; Hodgson S; de Menis E; Kuismin O; Izatt L; McKinlay Gardner RJ; Gundogdu S; Lucassen A; Arola J; Tuomisto A; Mäkinen M; Karhu A; Aaltonen LA
Article: INTERNATIONAL JOURNAL OF CANCER. 2010;127(12):2974-2980

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.

Gylfe AE; Sirkiä J; Ahlsten M; Järvinen H; Mecklin J-P; Karhu A; Aaltonen LA
Article: BRITISH JOURNAL OF CANCER. 2010;103(12):1875-1884

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

Theodoratou E; Campbell H; Tenesa A; Houlston R; Webb E; Lubbe S; Broderick P; Gallinger S; Croitoru EM; Jenkins MA; Win AK; Cleary SP; Koessler T; Pharoah PD; Küry S; Bézieau S; Buecher B; Ellis NA; Peterlongo P; Offit K; Aaltonen LA; Enholm S; Lindblom A; Zhou X-L; Tomlinson IP; Moreno V; Blanco I; Capellà G; Barnetson R; Porteous ME; Dunlop MG; Farrington SM
Article: CANCER RESEARCH. 2010;70(22):9153-9165

Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis.

Ashrafian H; O'Flaherty L; Adam J; Steeples V; Chung Y-L; East P; Vanharanta S; Lehtonen H; Nye E; Hatipoglu E; Miranda M; Howarth K; Shukla D; Troy H; Griffiths J; Spencer-Dene B; Yusuf M; Volpi E; Maxwell PH; Stamp G; Poulsom R; Pugh CW; Costa B; Bardella C; Di Renzo MF; Kotlikoff MI; Launonen V; Aaltonen L; El-Bahrawy M; Tomlinson I; Pollard PJ
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2010;95(11):E373-E383

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.

Daly AF; Tichomirowa MA; Petrossians P; Heliövaara E; Jaffrain-Rea M-L; Barlier A; Naves LA; Ebeling T; Karhu A; Raappana A; Cazabat L; De Menis E; Montañana CF; Raverot G; Weil RJ; Sane T; Maiter D; Neggers S; Yaneva M; Tabarin A; Verrua E; Eloranta E; Murat A; Vierimaa O; Salmela PI; Emy P; Toledo RA; Sabaté MI; Villa C; Popelier M; Salvatori R; Jennings J; Longás AF; Labarta Aizpún JI; Georgitsi M; Paschke R; Ronchi C; Valimaki M; Saloranta C; De Herder W; Cozzi R; Guitelman M; Magri F; Lagonigro MS; Halaby G; Corman V; Hagelstein M-T; Vanbellinghen J-F; Barra GB; Gimenez-Roqueplo A-P; Cameron FJ; Borson-Chazot F; Holdaway I; Toledo SPA; Stalla GK; Spada A; Zacharieva S; Bertherat J; Brue T; Bours V; Chanson P; Aaltonen LA; Beckers A
Article: NATURE GENETICS. 2010;42(11):973-977

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.

Houlston RS; Cheadle J; Dobbins SE; Tenesa A; Jones AM; Howarth K; Spain SL; Broderick P; Domingo E; Farrington S; Prendergast JGD; Pittman AM; Theodoratou E; Smith CG; Olver B; Walther A; Barnetson RA; Churchman M; Jaeger EEM; Penegar S; Barclay E; Martin L; Gorman M; Mager R; Johnstone E; Midgley R; Niittymäki I; Tuupanen S; Colley J; Idziaszczyk S; COGENT Consortium; Thomas HJW; Lucassen AM; Evans DGR; Maher ER; CORGI Consortium; COIN Collaborative Group; COINB Collaborative Group; Maughan T; Dimas A; Dermitzakis E; Cazier J-B; Aaltonen LA; Pharoah P; Kerr DJ; Carvajal-Carmona LG; Campbell H; Dunlop MG; Tomlinson IPM
Article: AMERICAN JOURNAL OF PATHOLOGY. 2010;177(4):1969-1976

Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression.

Raitila A; Lehtonen HJ; Arola J; Heliövaara E; Ahlsten M; Georgitsi M; Jalanko A; Paetau A; Aaltonen LA; Karhu A
Article: PLOS GENETICS. 2010;6(9):e1001126

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

Pittman AM; Naranjo S; Jalava SE; Twiss P; Ma Y; Olver B; Lloyd A; Vijayakrishnan J; Qureshi M; Broderick P; van Wezel T; Morreau H; Tuupanen S; Aaltonen LA; Alonso ME; Manzanares M; Gavilán A; Visakorpi T; Gómez-Skarmeta JL; Houlston RS
Article: HUMAN MOLECULAR GENETICS. 2010;19(14):2747-2753

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).

Kaasinen E; Aittomäki K; Eronen M; Vahteristo P; Karhu A; Mecklin J-P; Kajantie E; Aaltonen LA; Lehtonen R
Article: MOLECULAR CANCER RESEARCH. 2010;8(7):952-960

Mutations in the circadian gene CLOCK in colorectal cancer.

Alhopuro P; Björklund M; Sammalkorpi H; Turunen M; Tuupanen S; Biström M; Niittymäki I; Lehtonen HJ; Kivioja T; Launonen V; Saharinen J; Nousiainen K; Hautaniemi S; Nuorva K; Mecklin J-P; Järvinen H; Orntoft T; Arango D; Lehtonen R; Karhu A; Taipale J; Aaltonen LA
Article: FAMILIAL CANCER. 2010;9(2):245-251

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

Vahteristo P; Koski TA; Näätsaari L; Kiuru M; Karhu A; Herva R; Sallinen S-L; Vierimaa O; Björck E; Richard S; Gardie B; Bessis D; Van Glabeke E; Blanco I; Houlston R; Senter L; Hietala M; Aittomäki K; Aaltonen LA; Launonen V; Lehtonen R
Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2010;19(6):1478-1483

Low-penetrance susceptibility variants in familial colorectal cancer.

Niittymäki I; Kaasinen E; Tuupanen S; Karhu A; Järvinen H; Mecklin J-P; Tomlinson IPM; Di Bernardo MC; Houlston RS; Aaltonen LA
Article: HUMAN MOLECULAR GENETICS. 2010;19(4):697-706

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Velho S; Oliveira C; Paredes J; Sousa S; Leite M; Matos P; Milanezi F; Ribeiro AS; Mendes N; Licastro D; Karhu A; Oliveira MJ; Ligtenberg M; Hamelin R; Carneiro F; Lindblom A; Peltomaki P; Castedo S; Schwartz S; Jordan P; Aaltonen LA; Hofstra RMW; Suriano G; Stupka E; Fialho AM; Seruca R
Article: BRITISH JOURNAL OF CANCER. 2010;102(2):447-454

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

Tomlinson IPM; Dunlop M; Campbell H; Zanke B; Gallinger S; Hudson T; Koessler T; Pharoah PD; Niittymäki I; Tuupanen S; Aaltonen LA; Hemminki K; Lindblom A; Försti A; Sieber O; Lipton L; van Wezel T; Morreau H; Wijnen JT; Devilee P; Matsuda K; Nakamura Y; Castellví-Bel S; Ruiz-Ponte C; Castells A; Carracedo A; Ho JWC; Sham P; Hofstra RMW; Vodicka P; Brenner H; Hampe J; Schafmayer C; Tepel J; Schreiber S; Völzke H; Lerch MM; Schmidt CA; Buch S; Moreno V; Villanueva CM; Peterlongo P; Radice P; Echeverry MM; Velez A; Carvajal-Carmona L; Scott R; Penegar S; Broderick P; Tenesa A; Houlston RS
Article: CLINICAL CANCER RESEARCH. 2009;15(24):7642-7651

Metastasis-Associated Gene Expression Changes Predict Poor Outcomes in Patients with Dukes Stage B and C Colorectal Cancer.

Jorissen RN; Gibbs P; Christie M; Prakash S; Lipton L; Desai J; Kerr D; Aaltonen LA; Arango D; Kruhøffer M; Orntoft TF; Andersen CL; Gruidl M; Kamath VP; Eschrich S; Yeatman TJ; Sieber OM
Article: AMERICAN JOURNAL OF PATHOLOGY. 2009;175(6):2501-2507

The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas.

Heliövaara E; Raitila A; Launonen V; Paetau A; Arola J; Lehtonen H; Sane T; Weil RJ; Vierimaa O; Salmela P; Tuppurainen K; Mäkinen M; Aaltonen LA; Karhu A
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2009;161(5):799-804

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene.

Jennings JE; Georgitsi M; Holdaway I; Daly AF; Tichomirowa M; Beckers A; Aaltonen LA; Karhu A; Cameron FJ
Article: CANCER RESEARCH. 2009;69(19):7811-7818

An A13 repeat within the 3'-untranslated region of epidermal growth factor receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression.

Yuan Z; Shin J; Wilson A; Goel S; Ling Y-H; Ahmed N; Dopeso H; Jhawer M; Nasser S; Montagna C; Fordyce K; Augenlicht LH; Aaltonen LA; Arango D; Weber TK; Mariadason JM
Article: NATURE GENETICS. 2009;41(8):885-890

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

Tuupanen S; Turunen M; Lehtonen R; Hallikas O; Vanharanta S; Kivioja T; Björklund M; Wei G; Yan J; Niittymäki I; Mecklin J-P; Järvinen H; Ristimäki A; Di-Bernardo M; East P; Carvajal-Carmona L; Houlston RS; Tomlinson I; Palin K; Ukkonen E; Karhu A; Taipale J; Aaltonen LA
Article: GENES CHROMOSOMES & CANCER. 2009;48(7):544-551

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.

Koski TA; Lehtonen HJ; Jee KJ; Ninomiya S; Joosse SA; Vahteristo P; Kiuru M; Karhu A; Sammalkorpi H; Vanharanta S; Lehtonen R; Edgren H; Nederlof PM; Hietala M; Aittomäki K; Herva R; Knuutila S; Aaltonen LA; Launonen V
Article: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. 2009;32(6):512-518

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Vierimaa O; Villablanca A; Alimov A; Georgitsi M; Raitila A; Vahteristo P; Larsson C; Ruokonen A; Eloranta E; Ebeling TML; Ignatius J; Aaltonen LA; Leisti J; Salmela PI
Article: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. 2009;32(5):426-429

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer.

Raitila A; Georgitsi M; Bonora E; Vargiolu M; Tuppurainen K; Mäkinen MJ; Vierimaa O; Salmela PI; Launonen V; Vahteristo P; Aaltonen LA; Romeo G; Karhu A
Article: ONCOGENE. 2009;28(9):1261-1273

Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.

Raimundo N; Vanharanta S; Aaltonen LA; Hovatta I; Suomalainen A
Article: BRITISH JOURNAL OF CANCER. 2009;100(3):511-523

Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer.

Andersen CL; Christensen LL; Thorsen K; Schepeler T; Sørensen FB; Verspaget HW; Simon R; Kruhøffer M; Aaltonen LA; Laurberg S; Ørntoft TF
Article: CLINICAL CANCER RESEARCH. 2008;14(24):8061-8069

DNA copy-number alterations underlie gene expression differences between microsatellite stable and unstable colorectal cancers.

Jorissen RN; Lipton L; Gibbs P; Chapman M; Desai J; Jones IT; Yeatman TJ; East P; Tomlinson IPM; Verspaget HW; Aaltonen LA; Kruhøffer M; Orntoft TF; Andersen CL; Sieber OM
Article: NATURE GENETICS. 2008;40(12):1426-1435

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

COGENT Study; Houlston RS; Webb E; Broderick P; Pittman AM; Di Bernardo MC; Lubbe S; Chandler I; Vijayakrishnan J; Sullivan K; Penegar S; Colorectal Cancer Association Study Consortium; Carvajal-Carmona L; Howarth K; Jaeger E; Spain SL; Walther A; Barclay E; Martin L; Gorman M; Domingo E; Teixeira AS; CoRGI Consortium; Kerr D; Cazier J-B; Niittymäki I; Tuupanen S; Karhu A; Aaltonen LA; Tomlinson IPM; Farrington SM; Tenesa A; Prendergast JGD; Barnetson RA; Cetnarskyj R; Porteous ME; Pharoah PDP; Koessler T; Hampe J; Buch S; Schafmayer C; Tepel J; Schreiber S; Völzke H; Chang-Claude J; Hoffmeister M; Brenner H; Zanke BW; Montpetit A; Hudson TJ; Gallinger S; Campbell H; Dunlop MG
Article: HUMAN MOLECULAR GENETICS. 2008;17(23):3720-3727

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.

Pittman AM; Webb E; Carvajal-Carmona L; Howarth K; Di Bernardo MC; Broderick P; Spain S; Walther A; Price A; Sullivan K; Twiss P; Fielding S; Rowan A; Jaeger E; Vijayakrishnan J; Chandler I; Penegar S; Qureshi M; Lubbe S; Domingo E; Kemp Z; Barclay E; Wood W; Martin L; Gorman M; Thomas H; Peto J; Bishop T; Gray R; Maher ER; Lucassen A; Kerr D; Evans GR; CORGI Consortium; van Wezel T; Morreau H; Wijnen JT; Hopper JL; Southey MC; Giles GG; Severi G; Castellví-Bel S; Ruiz-Ponte C; Carracedo A; Castells A; EPICOLON Consortium; Försti A; Hemminki K; Vodicka P; Naccarati A; Lipton L; Ho JWC; Cheng KK; Sham PC; Luk J; Agúndez JAG; Ladero JM; de la Hoya M; Caldés T; Niittymäki I; Tuupanen S; Karhu A; Aaltonen LA; Cazier J-B; Tomlinson IPM; Houlston RS
Article: PATHOGENETICS. 2008;1(1):2

Smad4 haploinsufficiency: a matter of dosage.

Alberici P; Gaspar C; Franken P; Gorski MM; de Vries I; Scott RJ; Ristimäki A; Aaltonen LA; Fodde R
Article: CLINICAL ENDOCRINOLOGY. 2008;69(4):621-627

Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas.

Georgitsi M; De Menis E; Cannavò S; Mäkinen MJ; Tuppurainen K; Pauletto P; Curtò L; Weil RJ; Paschke R; Zielinski G; Wasik A; Lubinski J; Vahteristo P; Karhu A; Aaltonen LA
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2008;93(10):4146-4151

Large genomic deletions in AIP in pituitary adenoma predisposition.

Georgitsi M; Heliövaara E; Paschke R; Kumar AVK; Tischkowitz M; Vierimaa O; Salmela P; Sane T; De Menis E; Cannavò S; Gündogdu S; Lucassen A; Izatt L; Aylwin S; Bano G; Hodgson S; Koch CA; Karhu A; Aaltonen LA
Article: BMC CANCER. 2008;8:263

Somatic mutation analysis of MYH11 in breast and prostate cancer.

Alhopuro P; Karhu A; Winqvist R; Waltering K; Visakorpi T; Aaltonen LA
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2008;16(8):983-991

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.

Siltanen S; Syrjäkoski K; Fagerholm R; Ikonen T; Lipman P; Mallott J; Holli K; Tammela TLJ; Järvinen HJ; Mecklin J-P; Aittomäki K; Blomqvist C; Bailey-Wilson JE; Nevanlinna H; Aaltonen LA; Schleutker J; Vahteristo P
Article: CANCER GENETICS. 2008;183(2):83-88

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Ahvenainen T; Lehtonen HJ; Lehtonen R; Vahteristo P; Aittomäki K; Baynam G; Dommering C; Eng C; Gruber SB; Grönberg H; Harvima R; Herva R; Hietala M; Kujala M; Kääriäinen H; Sunde L; Vierimaa O; Pollard PJ; Tomlinson IPM; Björck E; Aaltonen LA; Launonen V
Article: CANCER CELL. 2008;13(5):407-419

Transcription factor PROX1 induces colon cancer progression by promoting the transition from benign to highly dysplastic phenotype.

Petrova TV; Nykänen A; Norrmén C; Ivanov KI; Andersson LC; Haglund C; Puolakkainen P; Wempe F; von Melchner H; Gradwohl G; Vanharanta S; Aaltonen LA; Saharinen J; Gentile M; Clarke A; Taipale J; Oliver G; Alitalo K
Article: NATURE GENETICS. 2008;40(5):623-630

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.

Tomlinson IPM; Webb E; Carvajal-Carmona L; Broderick P; Howarth K; Pittman AM; Spain S; Lubbe S; Walther A; Sullivan K; Jaeger E; Fielding S; Rowan A; Vijayakrishnan J; Domingo E; Chandler I; Kemp Z; Qureshi M; Farrington SM; Tenesa A; Prendergast JGD; Barnetson RA; Penegar S; Barclay E; Wood W; Martin L; Gorman M; Thomas H; Peto J; Bishop DT; Gray R; Maher ER; Lucassen A; Kerr D; Evans DGR; CORGI Consortium; Schafmayer C; Buch S; Völzke H; Hampe J; Schreiber S; John U; Koessler T; Pharoah P; van Wezel T; Morreau H; Wijnen JT; Hopper JL; Southey MC; Giles GG; Severi G; Castellví-Bel S; Ruiz-Ponte C; Carracedo A; Castells A; EPICOLON Consortium; Försti A; Hemminki K; Vodicka P; Naccarati A; Lipton L; Ho JWC; Cheng KK; Sham PC; Luk J; Agúndez JAG; Ladero JM; de la Hoya M; Caldés T; Niittymäki I; Tuupanen S; Karhu A; Aaltonen L; Cazier J-B; Campbell H; Dunlop MG; Houlston RS
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2008;105(14):5513-5518

Unregulated smooth-muscle myosin in human intestinal neoplasia.

Alhopuro P; Phichith D; Tuupanen S; Sammalkorpi H; Nybondas M; Saharinen J; Robinson JP; Yang Z; Chen L-Q; Orntoft T; Mecklin J-P; Järvinen H; Eng C; Moeslein G; Shibata D; Houlston RS; Lucassen A; Tomlinson IPM; Launonen V; Ristimäki A; Arango D; Karhu A; Sweeney HL; Aaltonen LA
Article: CANCER RESEARCH. 2008;68(1):14-17

Allelic imbalance at rs6983267 suggests selection of the risk allele in somatic colorectal tumor evolution.

Tuupanen S; Niittymäki I; Nousiainen K; Vanharanta S; Mecklin J-P; Nuorva K; Järvinen H; Hautaniemi S; Karhu A; Aaltonen LA
Article: CANCER RESEARCH. 2007;67(24):11677-11686

Functional diversity of human protection of telomeres 1 isoforms in telomere protection and cellular senescence.

Yang Q; Zhang R; Horikawa I; Fujita K; Afshar Y; Kokko A; Laiho P; Aaltonen LA; Harris CC
Article: JOURNAL OF MEDICAL GENETICS. 2007;44(11):718-720

Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.

Vahteristo P; Kokko A; Saksela O; Aittomäki K; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 2007;44(11):732-738

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.

Aktan-Collan K; Haukkala A; Pylvänäinen K; Järvinen HJ; Aaltonen LA; Peltomäki P; Rantanen E; Kääriäinen H; Mecklin J-P
Article: GASTROENTEROLOGY. 2007;133(4):1093-1098

Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome.

Mecklin J-P; Aarnio M; Läärä E; Kairaluoma MV; Pylvänäinen K; Peltomäki P; Aaltonen LA; Järvinen HJ
Article: INTERNATIONAL JOURNAL OF CANCER. 2007;121(6):1386-1389

Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.

Lehtonen HJ; Mäkinen MJ; Kiuru M; Laiho P; Herva R; van Minderhout I; Hogendoorn PCW; Cornelisse C; Devilee P; Launonen V; Aaltonen LA
Article: MOLECULAR ONCOLOGY. 2007;1(2):181-195

Phosphoprotein Keratin 23 accumulates in MSS but not MSI colon cancers in vivo and impacts viability and proliferation in vitro.

Birkenkamp-Demtroder K; Mansilla F; Sørensen FB; Kruhøffer M; Cabezón T; Christensen LL; Aaltonen LA; Verspaget HW; Ørntoft TF
Article: ENDOCRINE-RELATED CANCER. 2007;14(3):901-906

No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia.

Raitila A; Georgitsi M; Karhu A; Tuppurainen K; Mäkinen MJ; Birkenkamp-Demtröder K; Salmenkivi K; Orntoft TF; Arola J; Launonen V; Vahteristo P; Aaltonen LA
Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2007;16(9):1760-1766

Carbonic anhydrase IX is highly expressed in hereditary nonpolyposis colorectal cancer.

Niemelä AM; Hynninen P; Mecklin J-P; Kuopio T; Kokko A; Aaltonen L; Parkkila A-K; Pastorekova S; Pastorek J; Waheed A; Sly WS; Orntoft TF; Kruhøffer M; Haapasalo H; Parkkila S; Kivelä AJ
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2007;92(8):3321-3325

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

Georgitsi M; Raitila A; Karhu A; van der Luijt RB; Aalfs CM; Sane T; Vierimaa O; Mäkinen MJ; Tuppurainen K; Paschke R; Gimm O; Koch CA; Gündogdu S; Lucassen A; Tischkowitz M; Izatt L; Aylwin S; Bano G; Hodgson S; De Menis E; Launonen V; Vahteristo P; Aaltonen LA
Article: BIOINFORMATICS. 2007;23(15):1952-1961

Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays.

Laakso M; Tuupanen S; Karhu A; Lehtonen R; Aaltonen LA; Hautaniemi S
Article: INTERNATIONAL JOURNAL OF CANCER. 2007;121(1):76-79

No evidence for association of NOD2 R702W and G908R with colorectal cancer.

Tuupanen S; Alhopuro P; Mecklin J-P; Järvinen H; Aaltonen LA
Article: BRITISH JOURNAL OF CANCER. 2007;96(12):1896-1903

Differential expression of DHHC9 in microsatellite stable and instable human colorectal cancer subgroups.

Mansilla F; Birkenkamp-Demtroder K; Kruhøffer M; Sørensen FB; Andersen CL; Laiho P; Aaltonen LA; Verspaget HW; Orntoft TF
Article: CANCER RESEARCH. 2007;67(12):5691-5698

Background mutation frequency in microsatellite-unstable colorectal cancer.

Sammalkorpi H; Alhopuro P; Lehtonen R; Tuimala J; Mecklin J-P; Järvinen HJ; Jiricny J; Karhu A; Aaltonen LA
Article: MOLECULAR & CELLULAR PROTEOMICS. 2007;6(6):1039-1048

Clusterin expression in normal mucosa and colorectal cancer.

Andersen CL; Schepeler T; Thorsen K; Birkenkamp-Demtröder K; Mansilla F; Aaltonen LA; Laurberg S; Ørntoft TF
Article: GENES CHROMOSOMES & CANCER. 2007;46(5):451-458

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region.

Vanharanta S; Wortham NC; Langford C; El-Bahrawy M; van der Spuy Z; Sjöberg J; Lehtonen R; Karhu A; Tomlinson IPM; Aaltonen LA
Article: HUMAN PATHOLOGY. 2007;38(5):793-796

Conventional renal cancer in a patient with fumarate hydratase mutation.

Lehtonen HJ; Blanco I; Piulats JM; Herva R; Launonen V; Aaltonen LA
Article: ONCOGENE. 2007;26(17):2513-2517

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer.

Tuupanen S; Karhu A; Järvinen H; Mecklin JP; Launonen V; Aaltonen LA
Article: NATURE. 2007;446(7133):316-319

A recurrent mutation in PALB2 in Finnish cancer families.

Erkko H; Xia B; Nikkilä J; Schleutker J; Syrjäkoski K; Mannermaa A; Kallioniemi A; Pylkäs K; Karppinen S-M; Rapakko K; Miron A; Sheng Q; Li G; Mattila H; Bell DW; Haber DA; Grip M; Reiman M; Jukkola-Vuorinen A; Mustonen A; Kere J; Aaltonen LA; Kosma V-M; Kataja V; Soini Y; Drapkin RI; Livingston DM; Winqvist R
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2007;104(10):4101-4105

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.

Georgitsi M; Raitila A; Karhu A; Tuppurainen K; Mäkinen MJ; Vierimaa O; Paschke R; Saeger W; van der Luijt RB; Sane T; Robledo M; De Menis E; Weil RJ; Wasik A; Zielinski G; Lucewicz O; Lubinski J; Launonen V; Vahteristo P; Aaltonen LA
Article: GENE EXPRESSION. 2007;14(2):59-69

Stress-induced expression of a novel variant of human fumarate hydratase (FH).

Lehtonen HJ; Ylisaukko-Oja SK; Kiuru M; Karhu A; Lehtonen R; Vanharanta S; Jalanko A; Aaltonen LA; Launonen V
Article: BRITISH JOURNAL OF CANCER. 2007;96(2):352-356

Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers.

Georgitsi M; Karhu A; Winqvist R; Visakorpi T; Waltering K; Vahteristo P; Launonen V; Aaltonen LA
Article: ONCOGENE. 2007;26(2):312-320

Serrated carcinomas form a subclass of colorectal cancer with distinct molecular basis.

Laiho P; Kokko A; Vanharanta S; Salovaara R; Sammalkorpi H; Järvinen H; Mecklin J-P; Karttunen TJ; Tuppurainen K; Davalos V; Schwartz S; Arango D; Mäkinen MJ; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 2007;44(1):75-80

Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells.

Alazzouzi H; Suriano G; Guerra A; Plaja A; Espín E; Armengol M; Alhopuro P; Velho S; Shinomura Y; González-Aguilera JJ; Yamamoto H; Aaltonen LA; Moreno V; Capellà G; Peinado MA; Seruca R; Arango D; Schwartz S
Article: CLINICAL CANCER RESEARCH. 2007;13(1):356-361

Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors.

Aaltonen L; Johns L; Järvinen H; Mecklin J-P; Houlston R
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(12):950-952

MDM2 SNP309 accelerates colorectal tumour formation in women.

Bond GL; Menin C; Bertorelle R; Alhopuro P; Aaltonen LA; Levine AJ
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(11):856-862

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies.

Karppinen S-M; Barkardottir RB; Backenhorn K; Sydenham T; Syrjäkoski K; Schleutker J; Ikonen T; Pylkäs K; Rapakko K; Erkko H; Johannesdottir G; Gerdes A-M; Thomassen M; Agnarsson BA; Grip M; Kallioniemi A; Kere J; Aaltonen LA; Arason A; Møller P; Kruse TA; Borg A; Winqvist R
Article: CANCER RESEARCH. 2006;66(18):8943-8948

EPHB4 and survival of colorectal cancer patients.

Davalos V; Dopeso H; Castaño J; Wilson AJ; Vilardell F; Romero-Gimenez J; Espín E; Armengol M; Capella G; Mariadason JM; Aaltonen LA; Schwartz S; Arango D
Article: INTERNATIONAL JOURNAL OF CANCER. 2006;119(2):283-287

Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.

Ylisaukko-oja SK; Kiuru M; Lehtonen HJ; Lehtonen R; Pukkala E; Arola J; Launonen V; Aaltonen LA
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2006;14(7):880-883

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.

Ylisaukko-oja SK; Cybulski C; Lehtonen R; Kiuru M; Matyjasik J; Szymañska A; Szymañska-Pasternak J; Dyrskjot L; Butzow R; Orntoft TF; Launonen V; Lubiñski J; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(7):e34

CHEK2 I157T associates with familial and sporadic colorectal cancer.

Kilpivaara O; Alhopuro P; Vahteristo P; Aaltonen LA; Nevanlinna H
Article: BMC CANCER. 2006;6:145

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.

Kokko A; Laiho P; Lehtonen R; Korja S; Carvajal-Carmona LG; Järvinen H; Mecklin J-P; Eng C; Schleutker J; Tomlinson IPM; Vahteristo P; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(6):523-526

Increased risk of cancer in patients with fumarate hydratase germline mutation.

Lehtonen HJ; Kiuru M; Ylisaukko-Oja SK; Salovaara R; Herva R; Koivisto PA; Vierimaa O; Aittomäki K; Pukkala E; Launonen V; Aaltonen LA
Article: SCIENCE. 2006;312(5777):1228-1230

Pituitary adenoma predisposition caused by germline mutations in the AIP gene.

Vierimaa O; Georgitsi M; Lehtonen R; Vahteristo P; Kokko A; Raitila A; Tuppurainen K; Ebeling TML; Salmela PI; Paschke R; Gündogdu S; De Menis E; Mäkinen MJ; Launonen V; Karhu A; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(5):e18

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.

Volikos E; Robinson J; Aittomäki K; Mecklin J-P; Järvinen H; Westerman AM; de Rooji FWM; Vogel T; Moeslein G; Launonen V; Tomlinson IPM; Silver ARJ; Aaltonen LA
Article: NATURE GENETICS. 2006;38(5):566-569

A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition.

Ropero S; Fraga MF; Ballestar E; Hamelin R; Yamamoto H; Boix-Chornet M; Caballero R; Alaminos M; Setien F; Paz MF; Herranz M; Palacios J; Arango D; Orntoft TF; Aaltonen LA; Schwartz S; Esteller M
Article: INTERNATIONAL JOURNAL OF CANCER. 2006;118(6):1340-1345

Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.

Kokko A; Ylisaukko-Oja SSK; Kiuru M; Takatalo MS; Salmikangas P; Tuimala J; Arango D; Karhu A; Aaltonen LA; Jäntti J
Article: INTERNATIONAL JOURNAL OF CANCER. 2006;118(2):505-508

Preferential amplification of AURKA 91A (Ile31) in familial colorectal cancers.

Hienonen T; Salovaara R; Mecklin J-P; Järvinen H; Karhu A; Aaltonen LA
Article: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2006;122(18):2221-2230

[Not Available].

Aaltonen LA
Article: HUMAN MOLECULAR GENETICS. 2006;15(1):97-103

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.

Vanharanta S; Pollard PJ; Lehtonen HJ; Laiho P; Sjöberg J; Leminen A; Aittomäki K; Arola J; Kruhoffer M; Orntoft TF; Tomlinson IP; Kiuru M; Arango D; Aaltonen LA
Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 2005;294(19):2465-2473

Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.

Sweet K; Willis J; Zhou X-P; Gallione C; Sawada T; Alhopuro P; Khoo SK; Patocs A; Martin C; Bridgeman S; Heinz J; Pilarski R; Lehtonen R; Prior TW; Frebourg T; Teh BT; Marchuk DA; Aaltonen LA; Eng C
Article: CANCER RESEARCH. 2005;65(22):10170-10173

Mechanisms of inactivation of the receptor tyrosine kinase EPHB2 in colorectal tumors.

Alazzouzi H; Davalos V; Kokko A; Domingo E; Woerner SM; Wilson AJ; Konrad L; Laiho P; Espín E; Armengol M; Imai K; Yamamoto H; Mariadason JM; Gebert JF; Aaltonen LA; Schwartz S; Arango D
Article: BMC CANCER. 2005;5:126

Numbers of mutations to different types of colorectal cancer.

Calabrese P; Mecklin J-P; Järvinen HJ; Aaltonen LA; Tavaré S; Shibata D
Article: HUMAN MUTATION. 2005;26(4):393

A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.

Alhopuro P; Parker AR; Lehtonen R; Enholm S; Järvinen HJ; Mecklin J-P; Karhu A; Eshleman JR; Aaltonen LA
Article: CLINICAL CANCER RESEARCH. 2005;11(19 Pt 1):6840-6844

p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome.

Sotamaa K; Liyanarachchi S; Mecklin J-P; Järvinen H; Aaltonen LA; Peltomäki P; de la Chapelle A
Article: ONCOGENE. 2005;24(43):6545-6554

7q deletion mapping and expression profiling in uterine fibroids.

Vanharanta S; Wortham NC; Laiho P; Sjöberg J; Aittomäki K; Arola J; Tomlinson IP; Karhu A; Arango D; Aaltonen LA
Article: CLINICAL CANCER RESEARCH. 2005;11(17):6311-6316

SMAD4 levels and response to 5-fluorouracil in colorectal cancer.

Alhopuro P; Alazzouzi H; Sammalkorpi H; Dávalos V; Salovaara R; Hemminki A; Järvinen H; Mecklin J-P; Schwartz S; Aaltonen LA; Arango D
Article: GASTROENTEROLOGY. 2005;129(3):874-884

Gene-expression profiling predicts recurrence in Dukes' C colorectal cancer.

Arango D; Laiho P; Kokko A; Alhopuro P; Sammalkorpi H; Salovaara R; Nicorici D; Hautaniemi S; Alazzouzi H; Mecklin J-P; Järvinen H; Hemminki A; Astola J; Schwartz S; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 2005;42(9):694-698

The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck.

Alhopuro P; Ylisaukko-Oja SK; Koskinen WJ; Bono P; Arola J; Järvinen HJ; Mecklin J-P; Atula T; Kontio R; Mäkitie AA; Suominen S; Leivo I; Vahteristo P; Aaltonen L-M; Aaltonen LA
Article: GASTROENTEROLOGY. 2005;129(2):415-421

Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.

Hampel H; Stephens JA; Pukkala E; Sankila R; Aaltonen LA; Mecklin J-P; de la Chapelle A
Article: BRITISH JOURNAL OF CANCER. 2005;92(12):2240-2248

Gene expression signatures for colorectal cancer microsatellite status and HNPCC.

Kruhøffer M; Jensen JL; Laiho P; Dyrskjøt L; Salovaara R; Arango D; Birkenkamp-Demtroder K; Sørensen FB; Christensen LL; Buhl L; Mecklin J-P; Järvinen H; Thykjaer T; Wikman FP; Bech-Knudsen F; Juhola M; Nupponen NN; Laurberg S; Andersen CL; Aaltonen LA; Ørntoft TF
Article: ONCOGENE. 2005;24(24):3995-3998

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.

Domingo E; Niessen RC; Oliveira C; Alhopuro P; Moutinho C; Espín E; Armengol M; Sijmons RH; Kleibeuker JH; Seruca R; Aaltonen LA; Imai K; Yamamoto H; Schwartz S; Hofstra RMW
Article: CANCER RESEARCH. 2005;65(11):4607-4613

Mutations in two short noncoding mononucleotide repeats in most microsatellite-unstable colorectal cancers.

Hienonen T; Sammalkorpi H; Enholm S; Alhopuro P; Barber TD; Lehtonen R; Nupponen NN; Lehtonen H; Salovaara R; Mecklin J-P; Järvinen H; Koistinen R; Arango D; Launonen V; Vogelstein B; Karhu A; Aaltonen LA
Article: JOURNAL OF CLINICAL ONCOLOGY. 2005;23(15):3526-3535

Molecular staging for survival prediction of colorectal cancer patients.

Eschrich S; Yang I; Bloom G; Kwong KY; Boulware D; Cantor A; Coppola D; Kruhøffer M; Aaltonen L; Orntoft TF; Quackenbush J; Yeatman TJ
Article: GUT. 2005;54(5):643-647

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population.

Rasinperä H; Forsblom C; Enattah NS; Halonen P; Salo K; Victorzon M; Mecklin J-P; Järvinen H; Enholm S; Sellick G; Alazzouzi H; Houlston R; Robinson J; Groop P-H; Tomlinson I; Schwartz S; Aaltonen LA; Järvelä I; FinnDiane Study Group
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(4):506-509

No germline FH mutations in familial breast cancer patients.

Kiuru M; Lehtonen R; Eerola H; Aittomäki K; Blomqvist C; Nevanlinna H; Aaltonen LA; Launonen V
Article: CLINICAL CANCER RESEARCH. 2005;11(7):2606-2611

SMAD4 as a prognostic marker in colorectal cancer.

Alazzouzi H; Alhopuro P; Salovaara R; Sammalkorpi H; Järvinen H; Mecklin J-P; Hemminki A; Schwartz S; Aaltonen LA; Arango D
Article: JOURNAL OF MEDICAL GENETICS. 2005;42(4):e22

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.

Vahteristo P; Ojala S; Tamminen A; Tommiska J; Sammalkorpi H; Kiuru-Kuhlefelt S; Eerola H; Aaltonen LA; Aittomäki K; Nevanlinna H
Article: BRITISH JOURNAL OF CANCER. 2005;92(6):1126-1129

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome.

Alhopuro P; Katajisto P; Lehtonen R; Ylisaukko-Oja SK; Näätsaari L; Karhu A; Westerman AM; Wilson JHP; de Rooij FWM; Vogel T; Moeslein G; Tomlinson IP; Aaltonen LA; Mäkelä TP; Launonen V
Article: GUT. 2005;54(3):374-384

Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid.

Birkenkamp-Demtroder K; Olesen SH; Sørensen FB; Laurberg S; Laiho P; Aaltonen LA; Orntoft TF
Article: JOURNAL OF MEDICAL GENETICS. 2005;42(1):e3

A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma.

Hienonen T; Sammalkorpi H; Isohanni P; Versteeg R; Karikoski R; Aaltonen LA
Article: CANCER RESEARCH. 2004;64(20):7245-7247

NOD2 3020insC alone is not sufficient for colorectal cancer predisposition.

Alhopuro P; Ahvenainen T; Mecklin J-P; Juhola M; Järvinen HJ; Karhu A; Aaltonen LA
Article: HUMAN MOLECULAR GENETICS. 2004;13(19):2303-2311

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.

Oliveira C; Westra JL; Arango D; Ollikainen M; Domingo E; Ferreira A; Velho S; Niessen R; Lagerstedt K; Alhopuro P; Laiho P; Veiga I; Teixeira MR; Ligtenberg M; Kleibeuker JH; Sijmons RH; Plukker JT; Imai K; Lage P; Hamelin R; Albuquerque C; Schwartz S; Lindblom A; Peltomaki P; Yamamoto H; Aaltonen LA; Seruca R; Hofstra RMW
Article: JOURNAL OF MEDICAL GENETICS. 2004;41(9):664-668

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.

Domingo E; Laiho P; Ollikainen M; Pinto M; Wang L; French AJ; Westra J; Frebourg T; Espín E; Armengol M; Hamelin R; Yamamoto H; Hofstra RMW; Seruca R; Lindblom A; Peltomäki P; Thibodeau SN; Aaltonen LA; Schwartz S
Article: JOURNAL OF MEDICAL GENETICS. 2004;41(7):484-491

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Howe JR; Sayed MG; Ahmed AF; Ringold J; Larsen-Haidle J; Merg A; Mitros FA; Vaccaro CA; Petersen GM; Giardiello FM; Tinley ST; Aaltonen LA; Lynch HT
Article: AMERICAN JOURNAL OF PATHOLOGY. 2004;164(4):1447-1453

Colorectal pretumor progression before and after loss of DNA mismatch repair.

Calabrese P; Tsao J-L; Yatabe Y; Salovaara R; Mecklin J-P; Järvinen HJ; Aaltonen LA; Tavaré S; Shibata D
Article: AMERICAN JOURNAL OF PATHOLOGY. 2004;164(1):17-22

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.

Lehtonen R; Kiuru M; Vanharanta S; Sjöberg J; Aaltonen L-M; Aittomäki K; Arola J; Butzow R; Eng C; Husgafvel-Pursiainen K; Isola J; Järvinen H; Koivisto P; Mecklin J-P; Peltomäki P; Salovaara R; Wasenius V-M; Karhu A; Launonen V; Nupponen NN; Aaltonen LA
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2004;74(1):153-159

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Vanharanta S; Buchta M; McWhinney SR; Virta SK; Peçzkowska M; Morrison CD; Lehtonen R; Januszewicz A; Järvinen H; Juhola M; Mecklin J-P; Pukkala E; Herva R; Kiuru M; Nupponen NN; Aaltonen LA; Neumann HPH; Eng C
Article: CANCER GENETICS. 2003;147(2):121-127

Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.

Alam NA; Gorman P; Jaeger EEM; Kelsell D; Leigh IM; Ratnavel R; Murdoch ME; Houlston RS; Aaltonen LA; Roylance RR; Tomlinson IPM
Article: CANCER RESEARCH. 2003;63(22):7595-7599

Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway.

Lipton L; Halford SE; Johnson V; Novelli MR; Jones A; Cummings C; Barclay E; Sieber O; Sadat A; Bisgaard M-L; Hodgson SV; Aaltonen LA; Thomas HJW; Tomlinson IPM
Article: JOURNAL OF MEDICAL GENETICS. 2003;40(10):e110-110

CHEK2 1100delC and colorectal cancer.

Kilpivaara O; Laiho P; Aaltonen LA; Nevanlinna H
Article: AMERICAN JOURNAL OF PATHOLOGY. 2003;163(3):827-832

Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.

Enholm S; Hienonen T; Suomalainen A; Lipton L; Tomlinson I; Kärjä V; Eskelinen M; Mecklin J-P; Karhu A; Järvinen HJ; Aaltonen LA
Article: INTERNATIONAL JOURNAL OF CANCER. 2003;106(2):292-296

Little evidence for involvement of MLH3 in colorectal cancer predisposition.

Hienonen T; Laiho P; Salovaara R; Mecklin J-P; Järvinen H; Sistonen P; Peltomäki P; Lehtonen R; Nupponen NN; Launonen V; Karhu A; Aaltonen LA
Article: CANCER. 2003;97(10):2432-2439

Subsequent primary malignancies after endometrial carcinoma and ovarian carcinoma.

Hemminki K; Aaltonen L; Li X
Article: JOURNAL OF MEDICAL GENETICS. 2003;40(5):e73

Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation.

Laiho P; Hienonen T; Mecklin J-P; Järvinen H; Karhu A; Launonen V; Aaltonen LA
Article: ONCOGENE. 2003;22(14):2206-2214

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases.

Laiho P; Hienonen T; Karhu A; Lipton L; Aalto Y; Thomas HJW; Birkenkamp-Demtroder K; Hodgson S; Salovaara R; Mecklin J-P; Järvinen H; Knuutila S; Halford S; Ørntoft TF; Tomlinson I; Launonen V; Houlston R; Aaltonen LA
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2003;348(9):791-799

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Sieber OM; Lipton L; Crabtree M; Heinimann K; Fidalgo P; Phillips RKS; Bisgaard M-L; Orntoft TF; Aaltonen LA; Hodgson SV; Thomas HJW; Tomlinson IPM
Article: CANCER RESEARCH. 2003;63(1):154-158

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer.

Jagmohan-Changur S; Poikonen T; Vilkki S; Launonen V; Wikman F; Orntoft TF; Møller P; Vasen H; Tops C; Kolodner RD; Mecklin J-P; Järvinen H; Bevan S; Houlston RS; Aaltonen LA; Fodde R; Wijnen J; Karhu A
Article: JOURNAL OF MEDICAL GENETICS. 2002;39(11):785-789

Screening for microsatellite instability target genes in colorectal cancers.

Vilkki S; Launonen V; Karhu A; Sistonen P; Västrik I; Aaltonen LA
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2002;99(19):12327-12332

Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposis.

Rossi DJ; Ylikorkala A; Korsisaari N; Salovaara R; Luukko K; Launonen V; Henkemeyer M; Ristimaki A; Aaltonen LA; Makela TP
Article: CANCER RESEARCH. 2002;62(16):4554-4557

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.

Kiuru M; Lehtonen R; Arola J; Salovaara R; Järvinen H; Aittomäki K; Sjöberg J; Visakorpi T; Knuutila S; Isola J; Delahunt B; Herva R; Launonen V; Karhu A; Aaltonen LA
Article: AMERICAN JOURNAL OF PATHOLOGY. 2002;161(2):439-447

PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers.

Zhou X-P; Loukola A; Salovaara R; Nystrom-Lahti M; Peltomäki P; de la Chapelle A; Aaltonen LA; Eng C
Article: CANCER RESEARCH. 2002;62(15):4352-4363

Gene expression in colorectal cancer.

Birkenkamp-Demtroder K; Christensen LL; Olesen SH; Frederiksen CM; Laiho P; Aaltonen LA; Laurberg S; Sørensen FB; Hagemann R; ØRntoft TF
Article: GUT. 2002;51(1):56-59

Frequent loss of SMAD4/DPC4 protein in colorectal cancers.

Salovaara R; Roth S; Loukola A; Launonen V; Sistonen P; Avizienyte E; Kristo P; Järvinen H; Souchelnytskyi S; Sarlomo-Rikala M; Aaltonen LA
Article: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2002;37(5):574-577

No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer.

Renkonen-Sinisalo L; Sipponen P; Aarnio M; Julkunen R; Aaltonen LA; Sarna S; Järvinen HJ; Mecklin JP
Article: HUMAN MUTATION. 2002;19(5):510-517

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.

Oliveira C; Bordin MC; Grehan N; Huntsman D; Suriano G; Machado JC; Kiviluoto T; Aaltonen L; Jackson CE; Seruca R; Caldas C
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2002;70(5):1357-1362

Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot.

Howe JR; Shellnut J; Wagner B; Ringold JC; Sayed MG; Ahmed AF; Lynch PM; Amos CI; Sistonen P; Aaltonen LA
Article: AMERICAN JOURNAL OF PATHOLOGY. 2002;160(4):1503-1506

PolyA deletions in hereditary nonpolyposis colorectal cancer: mutations before a gatekeeper.

Kim K-M; Salovaara R; Mecklin J-P; Järvinen HJ; Aaltonen LA; Shibata D
Article: NATURE GENETICS. 2002;30(4):406-410

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Tomlinson IPM; Alam NA; Rowan AJ; Barclay E; Jaeger EEM; Kelsell D; Leigh I; Gorman P; Lamlum H; Rahman S; Roylance RR; Olpin S; Bevan S; Barker K; Hearle N; Houlston RS; Kiuru M; Lehtonen R; Karhu A; Vilkki S; Laiho P; Eklund C; Vierimaa O; Aittomäki K; Hietala M; Sistonen P; Paetau A; Salovaara R; Herva R; Launonen V; Aaltonen LA; Multiple Leiomyoma Consortium
Article: CANCER RESEARCH. 2002;62(4):1166-1170

Low-level microsatellite instability in most colorectal carcinomas.

Laiho P; Launonen V; Lahermo P; Esteller M; Guo M; Herman JG; Mecklin J-P; Järvinen H; Sistonen P; Kim K-M; Shibata D; Houlston RS; Aaltonen LA
Article: HUMAN MOLECULAR GENETICS. 2001;10(26):3001-3007

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis.

Esteller M; Fraga MF; Guo M; Garcia-Foncillas J; Hedenfalk I; Godwin AK; Trojan J; Vaurs-Barrière C; Bignon YJ; Ramus S; Benitez J; Caldes T; Akiyama Y; Yuasa Y; Launonen V; Canal MJ; Rodriguez R; Capella G; Peinado MA; Borg A; Aaltonen LA; Ponder BA; Baylin SB; Herman JG
Article: CANCER RESEARCH. 2001;61(19):6991-6995

Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development.

Nakagawa H; Nuovo GJ; Zervos EE; Martin EW; Salovaara R; Aaltonen LA; de la Chapelle A
Article: AMERICAN JOURNAL OF PATHOLOGY. 2001;159(4):1293-1300

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.

Woodford-Richens KL; Rowan AJ; Poulsom R; Bevan S; Salovaara R; Aaltonen LA; Houlston RS; Wright NA; Tomlinson IP
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2001;8(4):439-443

A germline E-cadherin mutation in a family with gastric and colon cancer.

Salahshor S; Hou H; Diep CB; Loukola A; Zhang H; Liu T; Chen J; Iselius L; Rubio C; Lothe RA; Aaltonen L; Sun XF; Lindmark G; Lindblom A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2001;69(4):704-711

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP; Woodford-Richens K; Lehtonen R; Kurose K; Aldred M; Hampel H; Launonen V; Virta S; Pilarski R; Salovaara R; Bodmer WF; Conrad BA; Dunlop M; Hodgson SV; Iwama T; Järvinen H; Kellokumpu I; Kim JC; Leggett B; Markie D; Mecklin JP; Neale K; Phillips R; Piris J; Rozen P; Houlston RS; Aaltonen LA; Tomlinson IP; Eng C
Article: AMERICAN JOURNAL OF PATHOLOGY. 2001;159(3):825-829

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.

Kiuru M; Launonen V; Hietala M; Aittomäki K; Vierimaa O; Salovaara R; Arola J; Pukkala E; Sistonen P; Herva R; Aaltonen LA
Article: CANCER RESEARCH. 2001;61(15):5718-5722

p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

Vahteristo P; Tamminen A; Karvinen P; Eerola H; Eklund C; Aaltonen LA; Blomqvist C; Aittomäki K; Nevanlinna H
Article: AMERICAN JOURNAL OF PATHOLOGY. 2001;159(1):35-42

Allelic analysis of serous ovarian carcinoma reveals two putative tumor suppressor loci at 18q22-q23 distal to SMAD4, SMAD2, and DCC.

Lassus H; Salovaara R; Aaltonen LA; Butzow R
Article: CANCER RESEARCH. 2001;61(11):4545-4549

Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC).

Loukola A; Eklin K; Laiho P; Salovaara R; Kristo P; Järvinen H; Mecklin JP; Launonen V; Aaltonen LA
Article: CANCER RESEARCH. 2001;61(11):4541-4544

Extensive somatic microsatellite mutations in normal human tissue.

Vilkki S; Tsao JL; Loukola A; Pöyhönen M; Vierimaa O; Herva R; Aaltonen LA; Shibata D
Article: BRITISH JOURNAL OF CANCER. 2001;84(10):1314-1316

CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers.

Woodford-Richens KL; Halford S; Rowan A; Bevan S; Aaltonen LA; Wasan H; Bicknell D; Bodmer WF; Houlston RS; Tomlinson IP
Article: LABORATORY INVESTIGATION. 2001;81(4):517-526

Comparison of serous and mucinous ovarian carcinomas: distinct pattern of allelic loss at distal 8p and expression of transcription factor GATA-4.

Lassus H; Laitinen MP; Anttonen M; Heikinheimo M; Aaltonen LA; Ritvos O; Butzow R
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2001;98(6):3387-3392

Inherited susceptibility to uterine leiomyomas and renal cell cancer.

Launonen V; Vierimaa O; Kiuru M; Isola J; Roth S; Pukkala E; Sistonen P; Herva R; Aaltonen LA
Article: LEUKEMIA & LYMPHOMA. 2001;41(1-2):177-183

PPP2R1B gene in chronic lymphocytic leukemias and mantle cell lymphomas.

Zhu Y; Loukola A; Monni O; Kuokkanen K; Franssila K; Elonen E; Vilpo J; Joensuu H; Kere J; Aaltonen L; Knuutila S
Article: METHODS IN MOLECULAR MEDICINE. 2001;50:185-193

18 Direct Sequencing for Cowden Syndrome Gene PTEN (MMAC1) Mutations.

Aaltonen LA; Roth S; Eng C
Article: METHODS IN MOLECULAR MEDICINE. 2001;50:175-183

17 Direct Sequencing for Peutz-Jeghers Gene LKB1 (STK11) Mutations.

Aaltonen LA; Avizienyte E
Article: METHODS IN MOLECULAR MEDICINE. 2001;50:167-174

Direct Sequencing for Juvenile Polyposis Gene SMAD4/DPC4 Mutations.

Aaltonen LA; Roth S
Article: BRITISH JOURNAL OF CANCER. 2000;83(12):1643-1645

Population carrier frequency of hMSH2 and hMLH1 mutations.

Dunlop MG; Farrington SM; Nicholl I; Aaltonen L; Petersen G; Porteous M; Carothers A
Article: GASTROENTEROLOGY. 2000;119(4):921-928

Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy.

Hemminki A; Mecklin JP; Järvinen H; Aaltonen LA; Joensuu H
Article: BRITISH JOURNAL OF CANCER. 2000;83(8):1015-1019

No SMAD4 hypermethylation in colorectal cancer.

Roth S; Laiho P; Salovaara R; Launonen V; Aaltonen LA
Article: AMERICAN JOURNAL OF PATHOLOGY. 2000;157(2):347-352

Germline and somatic mutation analysis of MLH3 in MSI-positive colorectal cancer.

Loukola A; Vilkki S; Singh J; Launonen V; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 2000;37(8):588-592

The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers.

Wheeler JM; Loukola A; Aaltonen LA; Mortensen NJ; Bodmer WF
Article: JOURNAL OF CLINICAL ONCOLOGY. 2000;18(11):2193-2200

Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

Salovaara R; Loukola A; Kristo P; Kääriäinen H; Ahtola H; Eskelinen M; Härkönen N; Julkunen R; Kangas E; Ojala S; Tulikoura J; Valkamo E; Järvinen H; Mecklin JP; Aaltonen LA; de la Chapelle A
Article: GASTROENTEROLOGY. 2000;118(5):829-834

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.

Järvinen HJ; Aarnio M; Mustonen H; Aktan-Collan K; Aaltonen LA; Peltomäki P; De La Chapelle A; Mecklin JP
Article: CANCER RESEARCH. 2000;60(3):546-548

No evidence of Peutz-Jeghers syndrome gene LKB1 involvement in left-sided colorectal carcinomas.

Launonen V; Avizienyte E; Loukola A; Laiho P; Salovaara R; Järvinen H; Mecklin JP; Oku A; Shimane M; Kim HC; Kim JC; Nezu J; Aaltonen LA
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2000;97(3):1236-1241

Genetic reconstruction of individual colorectal tumor histories.

Tsao JL; Yatabe Y; Salovaara R; Järvinen HJ; Mecklin JP; Aaltonen LA; Tavaré S; Shibata D
Article: ONCOGENE. 2000;19(1):164-168

Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome.

Esteller M; Avizienyte E; Corn PG; Lothe RA; Baylin SB; Aaltonen LA; Herman JG
Article: AMERICAN JOURNAL OF PATHOLOGY. 1999;155(6):1849-1853

Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.

Loukola A; Salovaara R; Kristo P; Moisio AL; Kääriäinen H; Ahtola H; Eskelinen M; Härkönen N; Julkunen R; Kangas E; Ojala S; Tulikoura J; Valkamo E; Järvinen H; Mecklin JP; de la Chapelle A; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 1999;36(11):819-822

Strategies for screening for hereditary non-polyposis colorectal cancer.

Loukola A; de la Chapelle A; Aaltonen LA
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 1999;96(22):12661-12666

Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers.

Kuismanen SA; Holmberg MT; Salovaara R; Schweizer P; Aaltonen LA; de La Chapelle A; Nyström-Lahti M; Peltomäki P
Article: GENES CHROMOSOMES & CANCER. 1999;26(1):54-61

SMAD genes in juvenile polyposis.

Roth S; Sistonen P; Salovaara R; Hemminki A; Loukola A; Johansson M; Avizienyte E; Cleary KA; Lynch P; Amos CI; Kristo P; Mecklin JP; Kellokumpu I; Järvinen H; Aaltonen LA
Article: INTERNATIONAL JOURNAL OF CANCER. 1999;82(3):329-333

Characterization of the 17p amplicon in human sarcomas: microsatellite marker analysis.

Wolf M; Tarkkanen M; Hulsebos T; Larramendy ML; Forus A; Myklebost O; Aaltonen LA; Elomaa I; Knuutila S
Article: MOLECULAR CELL. 1999;3(6):799-804

Loss-of-function mutations in PPAR gamma associated with human colon cancer.

Sarraf P; Mueller E; Smith WM; Wright HM; Kum JB; Aaltonen LA; de la Chapelle A; Spiegelman BM; Eng C
Article: AMERICAN JOURNAL OF PATHOLOGY. 1999;154(6):1815-1824

Colorectal adenoma and cancer divergence. Evidence of multilineage progression.

Tsao JL; Tavaré S; Salovaara R; Jass JR; Aaltonen LA; Shibata D
Article: JOURNAL OF MEDICAL GENETICS. 1999;36(5):365-368

Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.

Wang ZJ; Churchman M; Avizienyte E; McKeown C; Davies S; Evans DG; Ferguson A; Ellis I; Xu WH; Yan ZY; Aaltonen LA; Tomlinson IP
Article: INTERNATIONAL JOURNAL OF CANCER. 1999;81(2):214-218

Cancer risk in mutation carriers of DNA-mismatch-repair genes.

Aarnio M; Sankila R; Pukkala E; Salovaara R; Aaltonen LA; de la Chapelle A; Peltomäki P; Mecklin JP; Järvinen HJ
Article: AMERICAN JOURNAL OF PATHOLOGY. 1999;154(3):677-681

LKB1 somatic mutations in sporadic tumors.

Avizienyte E; Loukola A; Roth S; Hemminki A; Tarkkanen M; Salovaara R; Arola J; Bützow R; Husgafvel-Pursiainen K; Kokkola A; Järvinen H; Aaltonen LA
Article: HUMAN MOLECULAR GENETICS. 1999;8(1):45-51

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

Ylikorkala A; Avizienyte E; Tomlinson IP; Tiainen M; Roth S; Loukola A; Hemminki A; Johansson M; Sistonen P; Markie D; Neale K; Phillips R; Zauber P; Twama T; Sampson J; Järvinen H; Mäkelä TP; Aaltonen LA
Article: GASTROENTEROLOGY. 1999;116(1):58-63

The I1307K polymorphism of the APC gene in colorectal cancer.

Prior TW; Chadwick RB; Papp AC; Arcot AN; Isa AM; Pearl DK; Stemmermann G; Percesepe A; Loukola A; Aaltonen LA; De La Chapelle A
Article: AMERICAN JOURNAL OF PATHOLOGY. 1998;153(4):1189-1200

Tracing cell fates in human colorectal tumors from somatic microsatellite mutations: evidence of adenomas with stem cell architecture.

Tsao JL; Zhang J; Salovaara R; Li ZH; Järvinen HJ; Mecklin JP; Aaltonen LA; Shibata D
Article: ONCOGENE. 1998;17(2):157-163

Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability.

Percesepe A; Kristo P; Aaltonen LA; Ponz de Leon M; de la Chapelle A; Peltomäki P
Article: NEW ENGLAND JOURNAL OF MEDICINE. 1998;338(21):1481-1487

Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.

Aaltonen LA; Salovaara R; Kristo P; Canzian F; Hemminki A; Peltomäki P; Chadwick RB; Kääriäinen H; Eskelinen M; Järvinen H; Mecklin JP; de la Chapelle A
Article: CANCER RESEARCH. 1998;58(10):2087-2090

Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors.

Avizienyte E; Roth S; Loukola A; Hemminki A; Lothe RA; Stenwig AE; Fosså SD; Salovaara R; Aaltonen LA
Article: SCIENCE. 1998;280(5366):1086-1088

Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

Howe JR; Roth S; Ringold JC; Summers RW; Järvinen HJ; Sistonen P; Tomlinson IP; Houlston RS; Bevan S; Mitros FA; Stone EM; Aaltonen LA
Article: BRITISH JOURNAL OF CANCER. 1998;77(8):1199-1202

A missense mutation in the BRCA2 gene in three siblings with ovarian cancer.

Roth S; Kristo P; Auranen A; Shayehgi M; Seal S; Collins N; Barfoot R; Rahman N; Klemi PJ; Grénman S; Sarantaus L; Nevanlinna H; Butzow R; Ashworth A; Stratton MR; Aaltonen LA
Article: ONCOGENE. 1998;16(5):681-684

Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene.

Hemminki A; Höglund P; Pukkala E; Salovaara R; Järvinen H; Norio R; Aaltonen LA
Article: NATURE. 1998;391(6663):184-187

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

Hemminki A; Markie D; Tomlinson I; Avizienyte E; Roth S; Loukola A; Bignell G; Warren W; Aminoff M; Höglund P; Järvinen H; Kristo P; Pelin K; Ridanpää M; Salovaara R; Toro T; Bodmer W; Olschwang S; Olsen AS; Stratton MR; de la Chapelle A; Aaltonen LA
Article: JOURNAL OF MEDICAL GENETICS. 1998;35(1):42-44

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

Olschwang S; Markie D; Seal S; Neale K; Phillips R; Cottrell S; Ellis I; Hodgson S; Zauber P; Spigelman A; Iwama T; Loff S; McKeown C; Marchese C; Sampson J; Davies S; Talbot I; Wyke J; Thomas G; Bodmer W; Hemminki A; Avizienyte E; de la Chapelle A; Aaltonen L; Tomlinson I
Article: RECENT RESULTS IN CANCER RESEARCH. 1998;154:306-311

Molecular epidemiology of hereditary nonpolyposis colorectal cancer in Finland.

Aaltonen LA
Article: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 1998;114(7):667-668

[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome].

Hemminki A; Avizienyte E; Roth S; Loukola A; Aaltonen LA; Järvinen H; de la Chapelle A
Article: CANCER RESEARCH. 1997;57(22):5017-5021

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.

Marsh DJ; Roth S; Lunetta KL; Hemminki A; Dahia PL; Sistonen P; Zheng Z; Caron S; van Orsouw NJ; Bodmer WF; Cottrell SE; Dunlop MG; Eccles D; Hodgson SV; Järvinen H; Kellokumpu I; Markie D; Neale K; Phillips R; Rozen P; Syngal S; Vijg J; Tomlinson IP; Aaltonen LA; Eng C
Article: INTERNATIONAL JOURNAL OF CANCER. 1997;74(5):551-555

Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome.

Aarnio M; Salovaara R; Aaltonen LA; Mecklin JP; Järvinen HJ
Article: GENES CHROMOSOMES & CANCER. 1997;18(4):269-278

MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.

Wu Y; Nyström-Lahti M; Osinga J; Looman MW; Peltomäki P; Aaltonen LA; de la Chapelle A; Hofstra RM; Buys CH
Article: CANCER GENETICS. 1997;93(1):33-38

Microsatellite markers as tools for characterization of DNA amplifications evaluated by comparative genomic hybridization.

Wolf M; Aaltonen LA; Szymanska J; Tarkkanen M; Elomaa I; Knuutila S
Article: GENES CHROMOSOMES & CANCER. 1997;18(1):66-70

Complexity of 12q13-22 amplicon in liposarcoma: microsatellite repeat analysis.

Wolf M; Aaltonen LA; Szymanska J; Tarkkanen M; Blomqvist C; Berner JM; Myklebost O; Knuutila S
Article: NATURE GENETICS. 1997;15(1):87-90

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.

Hemminki A; Tomlinson I; Markie D; Järvinen H; Sistonen P; Björkqvist AM; Knuutila S; Salovaara R; Bodmer W; Shibata D; de la Chapelle A; Aaltonen LA
Article: BRITISH JOURNAL OF CANCER. 1996;74(3):453-455

No evidence of microsatellite instability in bone tumours.

Tarkkanen M; Aaltonen LA; Böhling T; Kivioja A; Karaharju E; Elomaa I; Knuutila S
Article: CANCER RESEARCH. 1996;56(14):3331-3337

Semiautomated assessment of loss of heterozygosity and replication error in tumors.

Canzian F; Salovaara R; Hemminki A; Kristo P; Chadwick RB; Aaltonen LA; de la Chapelle A
Article: CYTOKINES AND MOLECULAR THERAPY. 1996;2(2):111-114

The multistep process of colon carcinogenesis.

Aaltonen LA
Article: AMERICAN JOURNAL OF PATHOLOGY. 1996;148(6):1757-1761

Effects of mutation and growth rates on patterns of microsatellite instability.

Li ZH; Aaltonen LA; Shu Q; Srivastava S; Grizzle WE; Shibata D
Article: NATURE MEDICINE. 1996;2(6):676-681

Somatic microsatellite mutations as molecular tumor clocks.

Shibata D; Navidi W; Salovaara R; Li ZH; Aaltonen LA
Article: AMERICAN JOURNAL OF PATHOLOGY. 1996;148(4):1075-1079

Telomerase activity is commonly detected in hereditary nonpolyposis colorectal cancers.

Li ZH; Salovaara R; Aaltonen LA; Shibata D
Article: GASTROENTEROLOGY. 1996;110(3):682-687

Better survival rates in patients with MLH1-associated hereditary colorectal cancer.

Sankila R; Aaltonen LA; Järvinen HJ; Mecklin JP
Article: INTERNATIONAL JOURNAL OF CANCER. 1995;64(6):430-433

Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome.

Aarnio M; Mecklin JP; Aaltonen LA; Nyström-Lahti M; Järvinen HJ
Article: NATURE MEDICINE. 1995;1(11):1203-1206

Founding mutations and Alu-mediated recombination in hereditary colon cancer.

Nyström-Lahti M; Kristo P; Nicolaides NC; Chang SY; Aaltonen LA; Moisio AL; Järvinen HJ; Mecklin JP; Kinzler KW; Vogelstein B
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Review: GYNECOLOGIC AND OBSTETRIC INVESTIGATION. 2024;89(2):73-86

Management of Uterine Fibroids and Sarcomas: The Palermo Position Paper.

Laganà AS; Romano A; Vanhie A; Bafort C; Götte M; Aaltonen LA; Mas A; De Bruyn C; Van den Bosch T; Coosemans A; Guerriero S; Haimovich S; Tanos V; Bongers M; Barra F; Al-Hendy A; Chiantera V; Leone Roberti Maggiore U
Preprint: BIORXIV. 2023;BIORXIV

The origin of intestinal cancer in the context of inflammation.

Verhagen MP; Joosten R; Schmitt M; Valimaki N; Sacchetti A; Rajamaki K; Choi J; Procopio P; Silva S; van der Steen B; van den Bosch TPP; Seinstra D; Doukas M; Augenlicht LH; Aaltonen LA; Fodde R
Corrigendum: NATURE GENETICS. 2023;55(6):1076

Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.

Cortés-Ciriano I; Lee JJ-K; Xi R; Jain D; Jung YL; Yang L; Gordenin D; Klimczak LJ; Zhang C-Z; Pellman DS; PCAWG Structural Variation Working Group; Park PJ; PCAWG Consortium
Corrigendum: NATURE GENETICS. 2023;55(3):519-520

Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.

Fernandez-Rozadilla C; Timofeeva M; Chen Z; Law P; Thomas M; Schmit S; Díez-Obrero V; Hsu L; Fernandez-Tajes J; Palles C; Sherwood K; Briggs S; Svinti V; Donnelly K; Farrington S; Blackmur J; Vaughan-Shaw P; Shu X-O; Long J; Cai Q; Guo X; Lu Y; Broderick P; Studd J; Huyghe J; Harrison T; Conti D; Dampier C; Devall M; Schumacher F; Melas M; Rennert G; Obón-Santacana M; Martín-Sánchez V; Moratalla-Navarro F; Oh JH; Kim J; Jee SH; Jung KJ; Kweon S-S; Shin M-H; Shin A; Ahn Y-O; Kim D-H; Oze I; Wen W; Matsuo K; Matsuda K; Tanikawa C; Ren Z; Gao Y-T; Jia W-H; Hopper J; Jenkins M; Win AK; Pai R; Figueiredo J; Haile R; Gallinger S; Woods M; Newcomb P; Duggan D; Cheadle J; Kaplan R; Maughan T; Kerr R; Kerr D; Kirac I; Böhm J; Mecklin L-P; Jousilahti P; Knekt P; Aaltonen L; Rissanen H; Pukkala E; Eriksson J; Cajuso T; Hänninen U; Kondelin J; Palin K; Tanskanen T; Renkonen-Sinisalo L; Zanke B; Männistö S; Albanes D; Weinstein S; Ruiz-Narvaez E; Palmer J; Buchanan D; Platz E; Visvanathan K; Ulrich C; Siegel E; Brezina S; Gsur A; Campbell P; Chang-Claude J; Hoffmeister M; Brenner H; Slattery M; Potter J; Tsilidis K; Schulze M; Gunter M; Murphy N; Castells A; Castellví-Bel S; Moreira L; Arndt V; Shcherbina A; Stern M; Pardamean B; Bishop T; Giles G; Southey M; Idos G; McDonnell K; Abu-Ful Z; Greenson J; Shulman K; Lejbkowicz F; Offit K; Su Y-R; Steinfelder R; Keku T; van Guelpen B; Hudson T; Hampel H; Pearlman R; Berndt S; Hayes R; Martinez ME; Thomas S; Corley D; Pharoah P; Larsson S; Yen Y; Lenz H-J; White E; Li L; Doheny K; Pugh E; Shelford T; Chan A; Cruz-Correa M; Lindblom A; Hunter D; Joshi A; Schafmayer C; Scacheri P; Kundaje A; Nickerson D; Schoen R; Hampe J; Stadler Z; Vodicka P; Vodickova L; Vymetalkova V; Papadopoulos N; Edlund C; Gauderman W; Thomas D; Shibata D; Toland A; Markowitz S; Kim A; Chanock S; van Duijnhoven F; Feskens E; Sakoda L; Gago-Dominguez M; Wolk A; Naccarati A; Pardini B; FitzGerald L; Lee SC; Ogino S; Bien S; Kooperberg C; Li C; Lin Y; Prentice R; Qu C; Bézieau S; Tangen C; Mardis E; Yamaji T; Sawada N; Iwasaki M; Haiman C; Le Marchand L; Wu A; Qu C; McNeil C; Coetzee G; Hayward C; Deary I; Harris S; Theodoratou E; Reid S; Walker M; Ooi LY; Moreno V; Casey G; Gruber S; Tomlinson I; Zheng W; Dunlop M; Houlston R; Peters U
Preprint: RES SQ. 2023;RES SQ

Paneth cells as the origin of intestinal cancer in the context of inflammation.

Verhagen MP; Joosten R; Schmitt M; Sacchetti A; Choi J; Välimäki N; Aaltonen LA; Augenlicht LH; Fodde R
Review: HUMAN MOLECULAR GENETICS. 2021;30(R2):R206-R224

From APC to the genetics of hereditary and familial colon cancer syndromes.

Olkinuora AP; Peltomäki PT; Aaltonen LA; Rajamäki K
Other: NATURE GENETICS. 2016;48(2):221

Retraction: A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function.

Melo SA; Ropero S; Moutinho C; Aaltonen LA; Yamamoto H; Calin GA; Rossi S; Fernandez AF; Carneiro F; Oliveira C; Ferreira B; Liu C-G; Villanueva A; Capella G; Schwartz S; Shiekhattar R; Esteller M
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2015;170(3):428-431

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.

Ristolainen H; Kilpivaara O; Kamper P; Taskinen M; Saarinen S; Leppä S; d'Amore F; Aaltonen LA
Letter: NEW ENGLAND JOURNAL OF MEDICINE. 2013;369(22):2160-2161

Chromothripsis in uterine leiomyomas.

Mehine M; Kaasinen E; Aaltonen LA
Review: CANCER RESEARCH. 2013;73(14):4180-4184

Lessons from functional analysis of genome-wide association studies.

Sur I; Tuupanen S; Whitington T; Aaltonen LA; Taipale J
Review: ENDOCRINE REVIEWS. 2013;34(2):239-277

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A; Aaltonen LA; Daly AF; Karhu A
Review: SCIENCE. 2013;339(6127):1559-1562

Diagnostic cancer genome sequencing and the contribution of germline variants.

Kilpivaara O; Aaltonen LA
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2011;154(3):413-415

Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma.

Saarinen S; Vahteristo P; Launonen V; Franssila K; Kivirikko S; Lehtonen R; Bain BJ; Bauduer F; Ünal A; Aaltonen LA; Aittomäki K
Corrigendum: NATURE GENETICS. 2010;42(5):464

A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function (vol 41, pg 365, 2009)

Melo SA; Ropero S; Moutinho C; Aaltonen LA; Yamamoto H; Calin GA; Rossi S; Fernandez AF; Carneiro F; Oliveira C; Ferreira B; Liu C-G; Villanueva A; Capella G; Schwartz SJ; Shiekhattar R; Esteller M
Corrigendum: CANCER RESEARCH. 2010;70(3):1275

An A13 Repeat within the 3′-Untranslated Region of Epidermal Growth Factor Receptor (EGFR) Is Frequently Mutated in Microsatellite Instability Colon Cancers and Is Associated with Increased EGFR Expression (vol 69, pg 7811, 2009)

Yuan Z; Shin J; Wilson A; Goel S; Ling Y-H; Ahmed N; Dopeso H; Jhawer M; Nasser S; Montagna C; Fordyce K; Augenlicht LH; Aaltonen LA; Arango D; Weber TK; Mariadason JM
Corrigendum: BRITISH JOURNAL OF CANCER. 2010;102(2):455

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (vol 102, pg 447, 2010)

Tomlinson IPM; Dunlop M; Campbell H; Zanke B; Gallinger S; Hudson T; Koessler T; Pharoah PD; Niittymaki I; Tuupanen S; Aaltonen LA; Hemminki K; Lindblom A; Forsti A; Sieber O; Lipton L; van Wezel T; Morreau H; Wijnen JT; Devilee P; Matsuda K; Nakamura Y; Castellvi-Bel S; Ruiz-Ponte C; Castells A; Carracedo A; Ho JWC; Sham P; Hofstra RMW; Vodicka P; Brenner H; Hampe J; Schafmayer C; Tepel J; Schreiber S; Volzke H; Lerch MM; Schmidt CA; Buch S; Moreno V; Villanueva CM; Peterlongo P; Radice P; Echeverry MM; Velez A; Carvajal-Carmona L; Scott R; Penegar S; Broderick P; Tenesa A; Houlston RS
Published conference paper: JOURNAL OF CLINICAL ONCOLOGY. 2009;27(28):4793-4797

Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members.

Järvinen HJ; Renkonen-Sinisalo L; Aktán-Collán K; Peltomäki P; Aaltonen LA; Mecklin J-P
Letter: LEUKEMIA & LYMPHOMA. 2008;49(9):1829-1831

Mutation analysis of MYH11 in acute myeloid leukemia.

Sammalkorpi H; Alhopuro P; Niittymäki I; Orntoft TF; Hokland P; Karhu A; Aaltonen LA
Review: HUMAN MOLECULAR GENETICS. 2007;16 Spec No 1:R73-R79

Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.

Karhu A; Aaltonen LA
Published conference paper: HORMONE RESEARCH IN PAEDIATRICS. 2007;68 Suppl 5:127-131

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA
Letter: CLINICAL CANCER RESEARCH. 2006;12(5):1654-1655

SMAD4 levels and allelic imbalance in 18q21 in colorectal cancer - In response

Arango D; Alhopuro P; Aaltonen LA
Letter: JOURNAL OF MEDICAL GENETICS. 2003;40(3):e19-19

No fumarate hydratase (FH) mutations in hereditary prostate cancer.

Lehtonen R; Kiuru M; Rökman A; Ikonen T; Cunningham JM; Schaid DJ; Matikainen M; Nupponen NN; Karhu A; Kallioniemi O-P; Thibodeau SN; Schleutker J; Aaltonen LA
Review: NATURE REVIEWS CANCER. 2003;3(3):193-202

A role for mitochondrial enzymes in inherited neoplasia and beyond.

Eng C; Kiuru M; Fernandez MJ; Aaltonen LA
Letter: JOURNAL OF PATHOLOGY. 2003;199(2):269-270

Re: Tomlinson et al. Does MSI-low exist - Authors' reply

Tomlinson I; Halford S; Aaltonen L; Hawkins N; Ward R
Review: JOURNAL OF PATHOLOGY. 2002;197(1):6-13

Does MSI-low exist?

Tomlinson I; Halford S; Aaltonen L; Hawkins N; Ward R
Other: JOURNAL OF CLINICAL PATHOLOGY. 2002;55(6):385-388

Frequent loss of SMAD4/DPC4 protein in colorectal cancers (Reprinted from Gut, vol 51, pg 56-59, 2002)

Salovaara R; Roth S; Loukola A; Launonen V; Sistonen P; Avizienyte E; Kristo P; Järvinen H; Souchelnytskyi S; Sarlomo-Rikala M; Aaltonen LA
Letter: CANCER RESEARCH. 2002;62(20):5989-5990

Correspondence re: P. Laiho et al., Low-level microsatellite instability in most colorectal carcinomas. Cancer Res., 62: 1166-1170, 2002. Reply

Laiho P; Aaltonen LA
Letter: JOURNAL OF MEDICAL GENETICS. 2001;38(5):327

Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm.

Aaltonen LM; Chen RW; Roth S; Mäkitie AA; Rihkanen H; Vaheri A; Aaltonen LA
Review: MECHANISMS AND THERAPY OF LIVER CANCER. 2001;80:83-114

Genetic predisposition and somatic diversification in tumor development and progression.

Shibata D; Aaltonen LA
Letter: JOURNAL OF MEDICAL GENETICS. 2001;38(1):49-52

E-cadherin is not frequently mutated in hereditary gastric cancer.

Avizienyte E; Launonen V; Salovaara R; Kiviluoto T; Aaltonen LA
Review: SEMINARS IN CANCER BIOLOGY. 2000;10(4):289-298

Hereditary intestinal cancer.

Aaltonen LA
Letter: JOURNAL OF MEDICAL GENETICS. 2000;37(4):298-300

Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal.

Roth S; Johansson M; Loukola A; Peltomäki P; Järvinen H; Mecklin JP; Aaltonen LA
Corrigendum: JOURNAL OF CLINICAL ONCOLOGY. 2000;18(19):3456

Population-based molecular detection of hereditary nonpolyposis colorectal cancer (vol 18, pg 2193, 2000)

Salovaara; de la Chapelle A; Aaltonen LA
Letter: JOURNAL OF MEDICAL GENETICS. 1999;36(12):943-944

PTEN and LKB1 genes in laryngeal tumours.

Chen RW; Avizienyte E; Roth S; Elivo I; Mäkitie AA; Aaltonen LM; Aaltonen LA
Letter: NATURE GENETICS. 1999;23(3):266-268

The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.

Riccio A; Aaltonen LA; Godwin AK; Loukola A; Percesepe A; Salovaara R; Masciullo V; Genuardi M; Paravatou-Petsotas M; Bassi DE; Ruggeri BA; Klein-Szanto AJ; Testa JR; Neri G; Bellacosa A
Letter: NEW ENGLAND JOURNAL OF MEDICINE. 1998;339(13):925

Molecular diagnosis of hereditary nonpolyposis colon cancer - Reply

Aaltonen LA; Mecklin JP; de la Chapelle A
Editorial comment: ANNALS OF MEDICINE. 1995;27(3):287-288

How many colon cancer genes?

Aaltonen LA
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Senior Forskare, Medicin, Huddinge, Karolinska Institutet, 2024-
Senior Forskare, Biovetenskaper och näringslära, Karolinska Institutet, 2024-2024

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