Cox, Angela; Dunning, Alison M; Garcia-Closas, Montserrat; Balasubramanian, Sabapathy; Reed, Malcolm WR; Pooley, Karen A; Scollen, Serena; Baynes, Caroline; Ponder, Bruce AJ; Chanock, Stephen; +71 more... Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Southey, Melissa C; Hopper, John L; McCredie, Margaret RE; Giles, Graham G; Fletcher, Olivia; Johnson, Nichola; dos Santos Silva, Isabel; Gibson, Lorna; Bojesen, Stig E; Nordestgaard, Børge G; Axelsson, Christen K; Torres, Diana; Hamann, Ute; Justenhoven, Christina; Brauch, Hiltrud; Chang-Claude, Jenny; Kropp, Silke; Risch, Angela; Wang-Gohrke, Shan; Schürmann, Peter; Bogdanova, Natalia; Dörk, Thilo; Fagerholm, Rainer; Aaltonen, Kirsimari; Blomqvist, Carl; Nevanlinna, Heli; Seal, Sheila; Renwick, Anthony; Stratton, Michael R; Rahman, Nazneen; Sangrajrang, Suleeporn; Hughes, David; Odefrey, Fabrice; Brennan, Paul; Spurdle, Amanda B; Chenevix-Trench, Georgia; Kathleen Cunningham Foundation Consortium for Research into Fami; Beesley, Jonathan; Mannermaa, Arto; Hartikainen, Jaana; Kataja, Vesa; Kosma, Veli-Matti; Couch, Fergus J; Olson, Janet E; Goode, Ellen L; Broeks, Annegien; Schmidt, Marjanka K; Hogervorst, Frans BL; Van't Veer, Laura J; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Wedrén, Sara; Hall, Per; Low, Yen-Ling; Liu, Jianjun; Milne, Roger L; Ribas, Gloria; Gonzalez-Neira, Anna; Benitez, Javier; Sigurdson, Alice J; Stredrick, Denise L; Alexander, Bruce H; Struewing, Jeffery P; Pharoah, Paul DP; Easton, Douglas F; Breast Cancer Association Consortium; (2007) A common coding variant in CASP8 is associated with breast cancer risk. Nature genetics, 39 (3). pp. 352-358. ISSN 1061-4036 DOI: https://doi.org/10.1038/ng1981
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Abstract
The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.
| Item Type | Article |
|---|---|
| Faculty and Department |
Faculty of Epidemiology and Population Health > Dept of Non-Communicable Disease Epidemiology Faculty of Epidemiology and Population Health > Dept of Infectious Disease Epidemiology (-2023) |
| Research Centre | Centre for Global Non-Communicable Diseases (NCDs) |
| PubMed ID | 17293864 |
| ISI | 244480000017 |
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