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Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review
Marieke Arts-de Jong1, Geertruida H de Bock2, Christi J van Asperen3
1Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, the Netherlands.
Abstract:
The presence of a germline BRCA1/2 mutation improves options for tailored risk-reducing strategies and treatment in both breast and ovarian cancer patients and their relatives. Currently, referral for germline BRCA1/2 mutation testing of women with epithelial ovarian cancer (EOC) varies widely, based on different criteria, such as age of onset, family history of breast and/or ovarian cancer and histological type of EOC. The overall probability of a germline BRCA1/2 mutation in women with EOC is above 10%, and a substantial part of the germline BRCA1/2 mutation carriers is missed when applying these criteria for referral. Therefore, we strongly recommend referral of all women with EOC for genetic counselling and DNA analysis.
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