Journal article

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

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



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 fam..

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Awarded by NHMRC

Awarded by Cancer Institute


Funding Acknowledgements

The authors would like to thank the families for their participation, and Georgia Chenevix-Trench for helpful advice. We thank Heather Thorne, Lynda Williams and Danni Surace for kConFab DNA preparation, the kConFab Central Registry staff, Eveline Niedermayr and Helene Holland for kConFab data management, the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) research nurses and staff of the Familial Cancer Clinics for data collection, the Clinical Follow Up Study (funded by NHMRC grants 145684 and 288704) for its contributions to the kConFab resource, Margaret McCredie for her contribution to the design of the ABCFS, and Chris Schroen for ABCFS sample and data management. kConFab is supported by the National Health and Medical Research Council (NHMRC) of Australia, the National Breast Cancer Foundation of Australia, and the Cancer Councils of Queensland, New South Wales, Western Australia, South Australia, and Victoria. The Australian Breast Cancer Family Study (ABCFS) was funded by the Australian National Health and Medical Research Council (NHMRC), the Victorian Health Promotion Foundation, the New South Wales Cancer Council, Cancer Institute (RFA # CA-95-011). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Cancer Family Registries (CFRs), nor does mention of trade names, commercial products or organizations imply endorsement by the US government or the CFR Centers. This study was funded by NHMRC. FL was a recipient of an Australian Postgraduate Award through the University of Queensland, ABS is funded by an NHMRC Career Development Award, and JLH is an Australia Fellow and Victorian Breast Cancer Research Consortium Group Leader.