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

Spurdle, Amanda B., Antoniou, Antonis C., Duffy, David L., Pandeya, Nirmala, Kelemen, Livia, Chen, Xiaoqing, Peock, Susan, Cook, Margaret R., Smith, Paula L., Purdie, David M., Newman, Beth, Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Giles, Graham G., Hopper, John L., kConFaB, EMBRACE Study Collaborators, ABCFS, AJBCS, Chenevix-Trench, Georgia and Easton, Douglas F. (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


Author Spurdle, Amanda B.
Antoniou, Antonis C.
Duffy, David L.
Pandeya, Nirmala
Kelemen, Livia
Chen, Xiaoqing
Peock, Susan
Cook, Margaret R.
Smith, Paula L.
Purdie, David M.
Newman, Beth
Dite, Gillian S.
Apicella, Carmel
Southey, Melissa C.
Giles, Graham G.
Hopper, John L.
kConFaB
EMBRACE Study Collaborators
ABCFS
AJBCS
Chenevix-Trench, Georgia
Easton, Douglas F.
Title The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
Formatted title
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
Journal name Breast Cancer Research   Check publisher's open access policy
ISSN 1465-5411
1465-542X
Publication date 2005-01-01
Year available 2004
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1186/bcr971
Open Access Status DOI
Volume 7
Issue 2
Start page R176
End page R183
Total pages 8
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
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.
Keyword AR
BRCA1
BRCA2
Modifier
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: ERA 2012 Admin Only
School of Public Health Publications
 
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