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. 2016 Jul:61:137-45.
doi: 10.1016/j.ejca.2016.03.009. Epub 2016 May 19.

Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review

Marieke Arts-de Jong  1 , Geertruida H de Bock  2 , Christi J van Asperen  3 , Marian J E Mourits  4 , Joanne A de Hullu  5 , C Marleen Kets  6
Affiliations

Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review

Marieke Arts-de Jong et al. Eur J Cancer. 2016 Jul.

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.

Keywords: BRCA mutation; Epithelial ovarian cancer; Genetic testing; Probability; Referral.

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