The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers

Spurdle, A.B. et al. (2005) The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research, 7(2), R176-R183. (doi:10.1186/bcr971)

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<p>Introduction: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier age at onset of breast cancer.</p> <p>Methods: A total of 604 living female Australian and British BRCA1 and/or BRCA2 mutation carriers from 376 families were genotyped for the AR CAG repeat polymorphism. The association between AR genotype and disease risk was assessed using Cox regression. AR genotype was analyzed as a dichotomous covariate using cut-points previously reported to be associated with increased risk among BRCA1 mutation carriers, and as a continuous variable considering smaller allele, larger allele and average allele size.</p> <p>Results: There was no evidence that the AR CAG repeat polymorphism modified disease risk in the 376 BRCA1 or 219 BRCA2 mutation carriers screened successfully. The rate ratio associated with possession of at least one allele with 28 or more CAG repeats was 0.74 (95% confidence interval 0.42–1.29; P = 0.3) for BRCA1 carriers, and 1.12 (95% confidence interval 0.55–2.25; P = 0.8) for BRCA2 carriers.</p> <p>Conclusion: The AR exon 1 CAG repeat polymorphism does not appear to have an effect on breast cancer risk in BRCA1 or BRCA2 mutation carriers.</p>

Item Type:Articles
Additional Information:Glasgow author Edward S Tobias is part of EMBRACE collaboration.
Glasgow Author(s) Enlighten ID:Tobias, Professor Edward
Authors: Spurdle, A.B., Antoniou, A.C., Duffy, D.L., Pandeya, N., Kelemen, L., Chen, X., Peock, S., Cook, M.R., Smith, P.L., Purdie, D.M., Newman, B., Dite, G.S., Apicella, C., Southey, M.C., Giles, G.G., Hopper, J.L., Chenevix-Trench, G., Easton, D.F., and Tobias, E.S.
Subjects:Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Clinical Specialities
Journal Name:Breast Cancer Research
Publisher:Biomed Central
ISSN (Online):1465-542X
Published Online:16 December 2004
Copyright Holders:Copyright © 2004 The Authors
First Published:First published in Breast Cancer Research 7(2):R176-R183
Publisher Policy:Reproduced under a Creative Commons Licence

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