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01-05-2009 | Epidemiology

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

Authors: Timothy R. Rebbeck, Antonis C. Antoniou, Trinidad Caldes Llopis, Heli Nevanlinna, Kristiina Aittomäki, Jacques Simard, Amanda B. Spurdle, Fergus J. Couch, Lutecia H. Mateus Pereira, Mark H. Greene, Irene L. Andrulis, Boris Pasche, Virginia Kaklamani, Ute Hamann, Csilla Szabo, Susan Peock, Margaret Cook, Patricia A. Harrington, Alan Donaldson, Allison M. Male, Carol Anne Gardiner, Helen Gregory, Lucy E. Side, Anne C. Robinson, Louise Emmerson, Ian Ellis, Jean-Philippe Peyrat, Joëlle Fournier, Philippe Vennin, Claude Adenis, Danièle Muller, Jean-Pierre Fricker, Michel Longy, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Karin Kast, Dieter Schaefer, Ursula G. Froster, Georgia Chenevix-Trench, Douglas F. Easton, KConFab, Ontario Cancer Genetics Network, Breast Cancer Family Registry, EMBRACE, GEMO

Published in: Breast Cancer Research and Treatment | Issue 1/2009

Abstract

Background The transforming growth factor β-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-β, 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.

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Title: No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study
Authors: Timothy R. Rebbeck
Antonis C. Antoniou
Trinidad Caldes Llopis
Heli Nevanlinna
Kristiina Aittomäki
Jacques Simard
Amanda B. Spurdle
Fergus J. Couch
Lutecia H. Mateus Pereira
Mark H. Greene
Irene L. Andrulis
Boris Pasche
Virginia Kaklamani
Ute Hamann
Csilla Szabo
Susan Peock
Margaret Cook
Patricia A. Harrington
Alan Donaldson
Allison M. Male
Carol Anne Gardiner
Helen Gregory
Lucy E. Side
Anne C. Robinson
Louise Emmerson
Ian Ellis
Jean-Philippe Peyrat
Joëlle Fournier
Philippe Vennin
Claude Adenis
Danièle Muller
Jean-Pierre Fricker
Michel Longy
Olga M. Sinilnikova
Dominique Stoppa-Lyonnet
Rita K. Schmutzler
Beatrix Versmold
Christoph Engel
Alfons Meindl
Karin Kast
Dieter Schaefer
Ursula G. Froster
Georgia Chenevix-Trench
Douglas F. Easton
KConFab
Ontario Cancer Genetics Network
Breast Cancer Family Registry
EMBRACE
GEMO
Publication date: 01-05-2009
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 1/2009
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-008-0064-8

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