RT Journal Article
SR Electronic
T1 The <strong><em>BRCA2</em></strong> 372 <strong><em>HH</em></strong> Genotype Is Associated with Risk of Breast Cancer in Australian Women Under Age 60 Years
JF Cancer Epidemiology Biomarkers &amp; Prevention
JO Cancer Epidemiol Biomarkers Prev
FD American Association for Cancer Research
SP 413
OP 416
VO 11
IS 4
A1 Spurdle, Amanda B.
A1 Hopper, John L.
A1 Chen, Xiaoqing
A1 Dite, Gillian S.
A1 Cui, Jisheng
A1 McCredie, Margaret R. E.
A1 Giles, Graham G.
A1 Ellis-Steinborner, Sarah
A1 Venter, Deon J.
A1 Newman, Beth
A1 Southey, Melissa C.
A1 Chenevix-Trench, Georgia
YR 2002
UL http://cebp.aacrjournals.org/content/11/4/413.abstract
AB The BRCA2 N372H nonconservative amino acid substitution polymorphism appears to affect fetal survival in a sex-dependent manner, and the HH genotype was found to be associated with a 1.3-fold risk of breast cancer from pooling five case-control studies of Northern European women. We investigated whether the BRCA2 N372H polymorphism was associated with breast cancer in Australian women using a population-based case-control design. The BRCA2 372 genotype was determined in 1397 cases under the age of 60 years at diagnosis of a first primary breast cancer and in 775 population-sampled controls frequency matched for age. Case-control analyses and comparisons of genotype distributions were conducted using logistic regression. All of the statistical tests were two-tailed. The HH genotype was independent of age and family history of breast cancer within cases and controls, and was more common in cases (9.2% versus 6.5%). It was associated with an increased risk of breast cancer, 1.47-fold unadjusted (95% confidence interval, 1.05–2.07; P = 0.02), and 1.42-fold (95% confidence interval, 1.00–2.02; P = 0.05) after adjusting for measured risk factors. This effect was still evident after excluding women with any non-Caucasian ancestry or the 33 cases known to have inherited a mutation in BRCA1 or BRCA2, and would explain ∼3% of breast cancer. The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women. This result is consistent with the findings for Northern European women.