Abstract
Breast
cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these
account for ∼9% of the familial risk of the
disease. We report here a meta-analysis of 9 genome-wide association studies,
including 10,052 breast cancer cases and 12,575 controls of European ancestry,
from which we selected 29,807 SNPs for further genotyping. These SNPs were
genotyped in 45,290 cases and 41,880 controls of European ancestry from 41
studies in the Breast Cancer Association Consortium (BCAC). The SNPs were
genotyped as part of a collaborative genotyping experiment involving four
consortia (Collaborative Oncological Gene-environment Study, COGS) and used a
custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000
SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at
genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that
more than 1,000 additional loci are involved in breast cancer susceptibility.
Source: Large-scale genotyping identifies 41 new loci
associated with breast cancer risk. Michailidou K, Hall P, Gonzalez-Neira A,
Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla
MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N; Breast and Ovarian Cancer
Susceptibility Collaboration, Fletcher O, Peto J, Gibson L, Dos Santos Silva I,
Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J,
Waisfisz Q, Meijers-Heijboer H, Adank M; Hereditary Breast and Ovarian Cancer
Research Group Netherlands (HEBON), van der Luijt RB, Hein R, Dahmen N, Beckman
L, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Hopper JL, Southey MC,
Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ,
Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M,
Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG,
Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D,
Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D,
Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot
CE, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A,
Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW,
Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE,
Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM;
kConFab Investigators; stralian Ovarian Cancer Study Group, Lindblom A,
Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM,
Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L,
Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Müller H, Arndt V,
Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J,
Brinton L, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K,
Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Brüning T; GENICA (Gene
Environment Interaction and Breast Cancer in Germany) Network, Radice P,
Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van
Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja
V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dörk T, Kristensen
VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh
DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram
DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman
M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S,
Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau
V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson
S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench
G, Dunning AM, Benitez J, Easton DF. Nat Genet. 2013 Apr;45(4):353-61.
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