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

Publication date: July 2016
Source:European Journal of Cancer, Volume 61
Author(s): Marieke Arts-de Jong, Geertruida H. de Bock, Christi J. van Asperen, Marian J.E. Mourits, Joanne A. de Hullu, C. Marleen Kets
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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