The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian women

Dowty, J. G., Lose, F., Jenkins, M. A., Chang, J. H., Chen, X. Q., Beesley, J., Dite, G. S., Southey, M. C., Byrnes, G. B., Tesoriero, A., Giles, G. G., ConFab Investigators, Australian Breast Cancer Family Study, Hooper, J. L. and Spurdle, A. B. (2008) The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian women. Breast Cancer Research and Treatment, 112 1: 35-39. doi:10.1007/s10549-007-9832-0

Author Dowty, J. G.
Lose, F.
Jenkins, M. A.
Chang, J. H.
Chen, X. Q.
Beesley, J.
Dite, G. S.
Southey, M. C.
Byrnes, G. B.
Tesoriero, A.
Giles, G. G.
ConFab Investigators
Australian Breast Cancer Family Study
Hooper, J. L.
Spurdle, A. B.
Title The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian women
Journal name Breast Cancer Research and Treatment   Check publisher's open access policy
ISSN 0167-6806
Publication date 2008-11-01
Year available 2007
Sub-type Article (original research)
DOI 10.1007/s10549-007-9832-0
Volume 112
Issue 1
Start page 35
End page 39
Total pages 5
Editor M. E. Lippman
Place of publication New York, NY, United States
Publisher Springer New York LLC
Language eng
Subject 320304 Medical Biochemistry - Nucleic Acids
730108 Cancer and related disorders
Abstract 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.
Keyword breast cancer
regressive logistic model
segregation analysis
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2008 Higher Education Research Data Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
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Created: Tue, 22 Apr 2008, 22:00:34 EST by Sarah Elliott on behalf of Medicine - Royal Brisbane and Women's Hospital