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A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study.
Dong X, Su YR, Barfield R, Bien SA, He Q, Harrison TA, Huyghe JR, Keku TO, Lindor NM, Schafmayer C, Chan AT, Gruber SB, Jenkins MA, Kooperberg C, Peters U, Hsu L. Dong X, et al. Among authors: jenkins ma. PLoS Genet. 2020 Aug 24;16(8):e1008947. doi: 10.1371/journal.pgen.1008947. eCollection 2020 Aug. PLoS Genet. 2020. PMID: 32833970 Free PMC article.
Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.
Win AK, Dowty JG, English DR, Campbell PT, Young JP, Winship I, Macrae FA, Lipton L, Parry S, Young GP, Buchanan DD, Martínez ME, Jacobs ET, Ahnen DJ, Haile RW, Casey G, Baron JA, Lindor NM, Thibodeau SN, Newcomb PA, Potter JD, Le Marchand L, Gallinger S, Hopper JL, Jenkins MA. Win AK, et al. Among authors: jenkins ma. Br J Cancer. 2011 Jun 28;105(1):162-9. doi: 10.1038/bjc.2011.172. Epub 2011 May 10. Br J Cancer. 2011. PMID: 21559014 Free PMC article.
Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer.
Whiffin N, Dobbins SE, Hosking FJ, Palles C, Tenesa A, Wang Y, Farrington SM, Jones AM, Broderick P, Campbell H, Newcomb PA, Casey G, Conti DV, Schumacher F, Gallinger S, Lindor NM, Hopper J, Jenkins M, Dunlop MG, Tomlinson IP, Houlston RS. Whiffin N, et al. Hum Mol Genet. 2013 Dec 15;22(24):5075-82. doi: 10.1093/hmg/ddt357. Epub 2013 Jul 30. Hum Mol Genet. 2013. PMID: 23904454 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
Ahsan H, Halpern J, Kibriya MG, Pierce BL, Tong L, Gamazon E, McGuire V, Felberg A, Shi J, Jasmine F, Roy S, Brutus R, Argos M, Melkonian S, Chang-Claude J, Andrulis I, Hopper JL, John EM, Malone K, Ursin G, Gammon MD, Thomas DC, Seminara D, Casey G, Knight JA, Southey MC, Giles GG, Santella RM, Lee E, Conti D, Duggan D, Gallinger S, Haile R, Jenkins M, Lindor NM, Newcomb P, Michailidou K, Apicella C, Park DJ, Peto J, Fletcher O, dos Santos Silva I, Lathrop M, Hunter DJ, Chanock SJ, Meindl A, Schmutzler RK, Müller-Myhsok B, Lochmann M, Beckmann L, Hein R, Makalic E, Schmidt DF, Bui QM, Stone J, Flesch-Janys D, Dahmen N, Nevanlinna H, Aittomäki K, Blomqvist C, Hall P, Czene K, Irwanto A, Liu J, Rahman N, Turnbull C; Familial Breast Cancer Study; Dunning AM, Pharoah P, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Nicolae D, Easton DF, Cox NJ, Whittemore AS. Ahsan H, et al. Cancer Epidemiol Biomarkers Prev. 2014 Apr;23(4):658-69. doi: 10.1158/1055-9965.EPI-13-0340. Epub 2014 Feb 3. Cancer Epidemiol Biomarkers Prev. 2014. PMID: 24493630 Free PMC article.
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
Whiffin N, Hosking FJ, Farrington SM, Palles C, Dobbins SE, Zgaga L, Lloyd A, Kinnersley B, Gorman M, Tenesa A, Broderick P, Wang Y, Barclay E, Hayward C, Martin L, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Liu T; Swedish Low-Risk Colorectal Cancer Study Group; Campbell H, Lindblom A, Houlston RS, Tomlinson IP, Dunlop MG. Whiffin N, et al. Hum Mol Genet. 2014 Sep 1;23(17):4729-37. doi: 10.1093/hmg/ddu177. Epub 2014 Apr 15. Hum Mol Genet. 2014. PMID: 24737748 Free PMC article.
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
Zhang B, Jia WH, Matsuda K, Kweon SS, Matsuo K, Xiang YB, Shin A, Jee SH, Kim DH, Cai Q, Long J, Shi J, Wen W, Yang G, Zhang Y, Li C, Li B, Guo Y, Ren Z, Ji BT, Pan ZZ, Takahashi A, Shin MH, Matsuda F, Gao YT, Oh JH, Kim S, Ahn YO; Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO); Chan AT, Chang-Claude J, Slattery ML; Colorectal Transdisciplinary (CORECT) Study; Gruber SB, Schumacher FR, Stenzel SL; Colon Cancer Family Registry (CCFR); Casey G, Kim HR, Jeong JY, Park JW, Li HL, Hosono S, Cho SH, Kubo M, Shu XO, Zeng YX, Zheng W. Zhang B, et al. Nat Genet. 2014 Jun;46(6):533-42. doi: 10.1038/ng.2985. Epub 2014 May 18. Nat Genet. 2014. PMID: 24836286 Free PMC article.
Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.
Wang H, Burnett T, Kono S, Haiman CA, Iwasaki M, Wilkens LR, Loo LW, Van Den Berg D, Kolonel LN, Henderson BE, Keku TO, Sandler RS, Signorello LB, Blot WJ, Newcomb PA, Pande M, Amos CI, West DW, Bézieau S, Berndt SI, Zanke BW, Hsu L; Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO); Lindor NM, Haile RW, Hopper JL, Jenkins MA, Gallinger S, Casey G; Colon Cancer Family Registry (CCFR); Stenzel SL, Schumacher FR, Peters U, Gruber SB; Colorectal Transdisciplinary Study (CORECT); Tsugane S, Stram DO, Le Marchand L. Wang H, et al. Among authors: jenkins ma. Nat Commun. 2014 Aug 8;5:4613. doi: 10.1038/ncomms5613. Nat Commun. 2014. PMID: 25105248 Free PMC article.
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE; Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators; Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry; Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON; Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Sim… See abstract for full author list ➔ Kuchenbaecker KB, et al. Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581431 Free PMC article.
469 results