The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Dite, Gillian S., Cui, Jisheng, McCredie, Margaret R. E., Giles, Graham G., Ellis-Steinborner, Sarah, Venter, Deon J., Newman, Beth, Southey, Melissa C. and Chenevix-Trench, Georgia (2002) The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiology Biomarkers & Prevention, 11 4: 413-416.


Author Spurdle, Amanda B.
Hopper, John L.
Chen, Xiaoqing
Dite, Gillian S.
Cui, Jisheng
McCredie, Margaret R. E.
Giles, Graham G.
Ellis-Steinborner, Sarah
Venter, Deon J.
Newman, Beth
Southey, Melissa C.
Chenevix-Trench, Georgia
Title The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years
Journal name Cancer Epidemiology Biomarkers & Prevention   Check publisher's open access policy
ISSN 1055-9965
Publication date 2002-04
Sub-type Article (original research)
Volume 11
Issue 4
Start page 413
End page 416
Total pages 4
Editor J. D. Potter
D. S. Alberts et al.
Place of publication Birmingham, U.S.A.
Publisher American Association for Cancer Research
Collection year 2002
Language eng
Subject C1
321015 Oncology and Carcinogenesis
730108 Cancer and related disorders
Abstract 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 BR 2 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 similar to3% 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.
Keyword Oncology
Public, Environmental & Occupational Health
Polymorphism
Mutations
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Created: Tue, 14 Aug 2007, 17:00:57 EST