biostudies-literatureRebbeck TRIntramural NIH HHSCancer Research UKNCI NIH HHS185-92https://www.ebi.ac.uk/biostudies/studies/S-EPMC2700286biostudies-literatureUnknown115(1)<h4>Background</h4>The transforming growth factor beta-1 gene (TGFB1) is a plausible candidate for breast cancer susceptibility. The L10P variant of TGFB1 is associated with higher circulating levels and secretion of TGF-beta, and recent large-scale studies suggest strongly that this variant is associated with breast cancer risk in the general population.<h4>Methods</h4>To evaluate whether TGFB1 L10P also modifies the risk of breast cancer in BRCA1 or BRCA2 mutation carriers, we undertook a multi-center study of 3,442 BRCA1 and 2,095 BRCA2 mutation carriers.<h4>Results</h4>We found no evidence of association between TGFB1 L10P and breast cancer risk in either BRCA1 or BRCA2 mutation carriers. The per-allele HR for the L10P variant was 1.01 (95%CI: 0.92-1.11) in BRCA1 carriers and 0.92 (95%Breast cancer research and treatmentNo association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.PMC2700286R01-CA102776N02-CP-11019-50R01 CA102776-04R01 CA102776-03R01 CA102776-02R01 CA102776-05U01 CA06946710118R01-CA112520U01 CA069446R01 CA122340U01 CA6944611022U01 CA69467R01 CA112520U01 CA69638N02CP11019CA122340R01 CA102776-01A1N02PC45022-46U01 CA069638P50-CA116201P50 CA116201R01 CA102776U01 CA069631U01 CA69398U01 CA069417N02CP65504U01 CA69631U01 CA69417CA-95-011U01 CA069398Peock SDaly MDurell SEeles RAndrulis ILPeyrat JPMackay JHodgson SAntoniou ACBuys SDaly PVennin PDouglas FFroster UGTerry MBTrembath RGardiner CAEaston DFEvans DGMale AMSimard JCouch FJDorkins HKaklamani VChenevix-Trench GBrewer CAittomaki KPaterson JBreast Cancer Family RegistryBurn JBignell AGEMOVersmold BWalker LEllis IDavidson RHarrington PASinilnikova OMHaites NCook MQuarrell OPorteous MEccles DNevanlinna HSzabo CMcKeown CSchmutzler RKGreene MHCook JMuller DAndrulis IAMorrison PIzatt LDonaldson ASide LEMurday VFournier JKConFabLongy MKast KAdenis CBarton DSteel MEMBRACEChu CPichert GRogers MEngel CLucassen AFricker JPEmmerson LRobinson ACCole TLalloo FRebbeck TRShenton AJohn EMMale APereira LHSpurdle ABHopper JLOntario Cancer Genetics NetworkBishop TSchaefer DRobinson AHamann UStoppa-Lyonnet DLlopis TCGregory HPasche BSide LRankin JMeindl AfalseNo association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.<h4>Background</h4>The transforming growth factor beta-1 gene (TGFB1) is a plausible candidate for breast cancer susceptibility. The L10P variant of TGFB1 is associated with higher circulating levels and secretion of TGF-beta, and recent large-scale studies suggest strongly that this variant is associated with breast cancer risk in the general population.<h4>Methods</h4>To evaluate whether TGFB1 L10P also modifies the risk of breast cancer in BRCA1 or BRCA2 mutation carriers, we undertook a multi-center study of 3,442 BRCA1 and 2,095 BRCA2 mutation carriers.<h4>Results</h4>We found no evidence of association between TGFB1 L10P and breast cancer risk in either BRCA1 or BRCA2 mutation carriers. The per-allele HR for the L10P variant was 1.01 (95%CI: 0.92-1.11) in BRCA1 carriers and 0.92 (95%2009-01-01T00:00:00Z2009 May2025-04-19T04:06:35.31Z2019-03-27T00:23:07ZS-EPMC27002861852388510.1007/s10549-008-0064-8