Journal article
Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features
PA James, S Sawyer, S Boyle, MA Young, S Kovalenko, R Doherty, J McKinley, K Alsop, V Beshay, M Harris, S Fox, GJ Lindeman, G Mitchell
Familial Cancer | SPRINGER | Published : 2015
Abstract
Large genomic rearrangements (LGRs) account for at least 10 % of the mutations in BRCA1 and 5 % of BRCA2 mutations in outbred hereditary breast and ovarian cancer (HBOC) families. Data from some series suggest LGRs represent particularly penetrant mutations. 1,034 index cases from HBOC families underwent comprehensive BRCA1 and BRCA2 mutation testing, including screening for LGRs. The personal and family history of 254 identified mutation carriers were compared based on mutation type. Thirty-six LGRs were detected; 32/122 (26 %) BRCA1 and 4/132 (3 %) BRCA2 mutations. High risk features (bilateral breast cancer, diagnosis <40 years, ovarian cancer, male breast cancer) were more commonly assoc..
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Awarded by Victorian Cancer Agency
Funding Acknowledgements
The authors gratefully acknowledge the assistance of Rebecca Driessen and Kylie Shackleton for the Victorian Familial Cancer Clinical Trials Group, along with Megan Rehfisch, Steven Macaskill, Ayiguli Ha, Jamie Thiessen, Elvina Johnston, Chris Michael-Lovatt and the Genetic Counsellors of the Victorian FCCs. This study was supported by funding from the Department of Health, Victoria (Australia). The Victorian Familial Cancer Clinical Trials Group was supported by the Victorian Cancer Agency (EOI09-50). GJL was supported by a NHMRC research fellowship, the Victorian Breast Cancer Research Consortium and State Government Operational Infrastructure Support.