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

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Authors
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
2007
Publisher
Nature Publishing Group
Citation
Nat. Genet. 39:352-358
Keywords
Breast Neoplasms/*geneticsCase-Control StudiesCaspase 8/*geneticsCohort Studies*Genetic Predisposition to DiseaseGenetic VariationGenotypePolymorphism, Single NucleotideRisk Factors
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.
ISSN
1061-4036 (Print)
Language
English
URI
http://www.nature.com/ng/journal/v39/n3/abs/ng1981.html

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17293864

http://hdl.handle.net/10371/10859
DOI
https://doi.org/10.1038/ng1981
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College of Medicine/School of Medicine (의과대학/대학원)Surgery (외과학전공)Journal Papers (저널논문_외과학전공)
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