A common coding variant in CASP8 is associated with breast cancer risk

Cited 0 time in webofscience Cited 402 time in scopus
Cox, Angela; Dunning, Alison M; Garcia-Closas, Montserrat; Balasubramanian, Sabapathy; Reed, Malcolm W R; Pooley, Karen A; Scollen, Serena; Baynes, Caroline; Ponder, Bruce A J; Chanock, Stephen; Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Southey, Melissa C; Hopper, John L; McCredie, Margaret R E; Giles, Graham G; Fletcher, Olivia; Johnson, Nichola; dos Santos Silva, Isabel; Gibson, Lorna; Bojesen, Stig E; Nordestgaard, Borge G; Axelsson, Christen K; Torres, Diana; Hamann, Ute; Justenhoven, Christina; Brauch, Hiltrud; Chang-Claude, Jenny; Kropp, Silke; Risch, Angela; Wang-Gohrke, Shan; Schurmann, Peter; Bogdanova, Natalia; Dork, 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; 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 B L; Van't Veer, Laura J; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Wedren, 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 D P; Easton, Douglas F
Issue Date
Nature Publishing Group
Nat. Genet. 39:352-358
Breast Neoplasms/*geneticsCase-Control StudiesCaspase 8/*geneticsCohort Studies*Genetic Predisposition to DiseaseGenetic VariationGenotypePolymorphism, Single NucleotideRisk Factors
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.
1061-4036 (Print)
Files in This Item:
There are no files associated with this item.
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Surgery (외과학전공)Journal Papers (저널논문_외과학전공)
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.