PT  - JOURNAL ARTICLE
AU  - Spurdle, Amanda B.
AU  - Hopper, John L.
AU  - Chen, Xiaoqing
AU  - Dite, Gillian S.
AU  - Cui, Jisheng
AU  - McCredie, Margaret R. E.
AU  - Giles, Graham G.
AU  - Ellis-Steinborner, Sarah
AU  - Venter, Deon J.
AU  - Newman, Beth
AU  - Southey, Melissa C.
AU  - Chenevix-Trench, Georgia
TI  - 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
DP  - 2002 Apr 01
TA  - Cancer Epidemiology Biomarkers & Prevention
PG  - 413--416
VI  - 11
IP  - 4
4099  - http://cebp.aacrjournals.org/content/11/4/413.short
4100  - http://cebp.aacrjournals.org/content/11/4/413.full
SO  - Cancer Epidemiol Biomarkers Prev2002 Apr 01; 11
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.