Document Detail

The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women.
MedLine Citation:
PMID:  18058226     Owner:  NLM     Status:  MEDLINE    
RAD51D is a homolog of the RAD51 protein, which is known to be an important component of the DNA repair pathway. A rare missense variant in the RAD51D gene, E233G (c.A>G), has been reported to be more prevalent in breast cancer cases from specific multiple-case breast cancer families, with an odds ratio of 2.6 (95% confidence interval (CI): 1.12-6.03). We assessed whether this variant was associated with breast cancer risk using two studies: a population-based case-control-family study based on 1,110 cases and 629 controls, and a clinic-based study based on 390 cases from multiple-case breast cancer families. We conducted case-control analyses and modified segregation analyses of carrier families. The carrier frequencies (95% CI) of the RAD51D variant were 4.1% (2.4-6.6) for clinic-based cases, 3.9% (2.8-5.2) for population-based cases, and 3.7% (2.3-5.4) for population-based controls, and were not significantly higher in case groups than controls (P=0.7 and P=0.8, respectively). After genotyping the relatives of cases who carried the variant, modified segregation analyses of these families were conducted, and the estimated hazard ratio for breast cancer corresponding to the E233G variant was 1.30 (95% CI: 0.66-2.58; P=0.4) for familial breast cancer families and 1.28 (95% CI: 0.47-3.43; P=0.6) for families unselected for family history. Therefore, despite being well powered to detect moderate risks, no evidence for an association between the E233G variant and breast cancer risk was observed in any setting. Larger studies would be required to determine if this variant is associated with a smaller risk of breast cancer.
James G Dowty; Felicity Lose; Mark A Jenkins; Jiun-Horng Chang; XiaoQing Chen; Jonathan Beesley; Gillian S Dite; Melissa C Southey; Graham B Byrnes; Andrea Tesoriero; Graham G Giles; John L Hopper; Amanda B Spurdle; ;
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2007-12-04
Journal Detail:
Title:  Breast cancer research and treatment     Volume:  112     ISSN:  0167-6806     ISO Abbreviation:  Breast Cancer Res. Treat.     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-09-30     Completed Date:  2008-12-10     Revised Date:  2011-10-03    
Medline Journal Info:
Nlm Unique ID:  8111104     Medline TA:  Breast Cancer Res Treat     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  35-9     Citation Subset:  IM    
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Victoria, Australia.
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MeSH Terms
Australia / epidemiology
Breast Neoplasms / epidemiology*,  genetics*
Case-Control Studies
DNA-Binding Proteins / genetics*
Genetic Predisposition to Disease
Middle Aged
Mutation, Missense*
Polymorphism, Genetic
Risk Factors
Young Adult
Grant Support
Reg. No./Substance:
0/DNA-Binding Proteins; 0/RAD51D protein, human

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