Journal article
BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer
KL Gorringe, DYH Choong, JE Visvader, GJ Lindeman, IG Campbell
Breast Cancer Research and Treatment | SPRINGER | Published : 2008
Abstract
Several studies in various populations have suggested that non-synonymous BARD1 variants are associated with increased breast cancer risk. Using DHPLC analysis we screened the coding region of BARD1 for variants in 210 probands of breast cancer families including 129 families with no mutations in BRCA1 or BRCA2. These families were ascertained in Australia through the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab). Nine coding variants were detected among the kConFab families, including two novel variants (Thr598Ile and Ile692Thr). The frequency of five of these variants were evaluated in 258 non-cancer controls and 401 women with sporadic breast..
View full abstractGrants
Funding Acknowledgements
The authors would like to thank Heather Thorne, Danni Surace and Lynda Williams for preparing DNA, the kConFab research nurses and staff of the Familial Cancer Clinics for data collection, kConFab Central Registry staff for supplying data, and the families for their participation. kConFab is supported by the NHMRC Australia, the National Breast Cancer Foundation of Australia and the Cancer Councils of New South Wales, Queensland, South Australia, Victoria and Western Australia. This work was supported by the Victorian Breast Cancer Research Consortium.