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The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Spurdle AB,
Antoniou AC,
Duffy DL,
Pandeya N,
Kelemen L,
Chen X,
Peock S,
Cook MR,
Smith PL,
Purdie DM,
Newman B,
Dite GS,
Apicella C,
Southey MC,
Giles GG,
Hopper JL,
Chenevix-Trench G,
Easton DF;
EMBRACE Study Collaborators.
Queensland Institute of Medical Research, Brisbane, Australia. mandyS@qimr.edu.au
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. 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. 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. 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.
PMID: 15743497 [PubMed - indexed for MEDLINE]
PMCID: PMC1064126
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Cited by 4 PubMed Central articles
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Systematic identification of transcription factors associated with patient survival in cancers.
Cheng C, Li LM, Alves P, Gerstein M.
BMC Genomics. 2009 May 15; 10:225. Epub 2009 May 15.
[BMC Genomics. 2009]
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An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA).
Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE, CIMBA.
Breast Cancer Res. 2007; 9(2):104.
[Breast Cancer Res. 2007]
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A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).
Cox DG, Blanché H, Pearce CL, Calle EE, Colditz GA, Pike MC, Albanes D, Allen NE, Amiano P, Berglund G, et al.
Breast Cancer Res. 2006; 8(5):R54.
[Breast Cancer Res. 2006]
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