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    Breast Cancer Res Treat. 2009 May;115(1):185-92. Epub 2008 Jun 4.

    No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.

    Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, Simard J, Spurdle AB; KConFab, Couch FJ, Pereira LH, Greene MH, Andrulis IL; Ontario Cancer Genetics Network, Pasche B, Kaklamani V; Breast Cancer Family Registry, Hamann U, Szabo C, Peock S, Cook M, Harrington PA, Donaldson A, Male AM, Gardiner CA, Gregory H, Side LE, Robinson AC, Emmerson L, Ellis I; EMBRACE, Peyrat JP, Fournier J, Vennin P, Adenis C, Muller D, Fricker JP, Longy M, Sinilnikova OM, Stoppa-Lyonnet D; GEMO, Schmutzler RK, Versmold B, Engel C, Meindl A, Kast K, Schaefer D, Froster UG, Chenevix-Trench G, Easton DF.

    Collaborators (50)
    Andrulis IA, Terry MB, Daly M, Buys S, John EM, Hopper JL, Schmutzler RK, Peock S, Cook M, Bignell A, Haites N, Gregory H, Morrison P, Cole T, McKeown C, Donaldson A, Paterson J, Rogers M, Daly P, Barton D, Porteous M, Steel M, Brewer C, Rankin J, Davidson R, Murday V, Izatt L, Pichert G, Dorkins H, Trembath R, Bishop T, Chu C, Ellis I, Evans DG, Lalloo F, Shenton A, Male A, Mackay J, Robinson A, Douglas F, Burn J, Side L, Walker L, Durell S, Eeles R, Cook J, Quarrell O, Hodgson S, Eccles D, Lucassen A.

    Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6021, USA. rebbeck@mail.med.upenn.edu

    BACKGROUND: 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. METHODS: 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. RESULTS: 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%CI: 0.81-1.04) in BRCA2 mutation carriers. CONCLUSIONS: These results do not support the hypothesis that TGFB1 L10P genotypes modify the risk of breast cancer in BRCA1 or BRCA2 mutation carriers.

    PMID: 18523885 [PubMed - indexed for MEDLINE]

    PMCID: 2700286

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