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. 2007 Mar;39(3):352-8.
doi: 10.1038/ng1981. Epub 2007 Feb 11.

A Common Coding Variant in CASP8 Is Associated With Breast Cancer Risk

Angela Cox  1 Alison M DunningMontserrat Garcia-ClosasSabapathy BalasubramanianMalcolm W R ReedKaren A PooleySerena ScollenCaroline BaynesBruce A J PonderStephen ChanockJolanta LissowskaLouise BrintonBeata PeplonskaMelissa C SoutheyJohn L HopperMargaret R E McCredieGraham G GilesOlivia FletcherNichola JohnsonIsabel dos Santos SilvaLorna GibsonStig E BojesenBørge G NordestgaardChristen K AxelssonDiana TorresUte HamannChristina JustenhovenHiltrud BrauchJenny Chang-ClaudeSilke KroppAngela RischShan Wang-GohrkePeter SchürmannNatalia BogdanovaThilo DörkRainer FagerholmKirsimari AaltonenCarl BlomqvistHeli NevanlinnaSheila SealAnthony RenwickMichael R StrattonNazneen RahmanSuleeporn SangrajrangDavid HughesFabrice OdefreyPaul BrennanAmanda B SpurdleGeorgia Chenevix-TrenchKathleen Cunningham Foundation Consortium for Research into Familial Breast CancerJonathan BeesleyArto MannermaaJaana HartikainenVesa KatajaVeli-Matti KosmaFergus J CouchJanet E OlsonEllen L GoodeAnnegien BroeksMarjanka K SchmidtFrans B L HogervorstLaura J Van't VeerDaehee KangKeun-Young YooDong-Young NohSei-Hyun AhnSara WedrénPer HallYen-Ling LowJianjun LiuRoger L MilneGloria RibasAnna Gonzalez-NeiraJavier BenitezAlice J SigurdsonDenise L StredrickBruce H AlexanderJeffery P StruewingPaul D P PharoahDouglas F EastonBreast Cancer Association Consortium
Affiliations

A Common Coding Variant in CASP8 Is Associated With Breast Cancer Risk

Angela Cox et al. Nat Genet. .

Erratum in

  • Nat Genet. 2007 May;39(5):688

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.

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