Highlights
- •Over 10% of all women with epithelial ovarian cancer (EOC) have a germline BRCA mutation.
- •Applying referral criteria leads to missing BRCA mutation carriers.
- •We strongly recommend to refer all women with EOC for genetic testing.
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
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Article info
Publication history
Published online: May 19, 2016
Accepted:
March 7,
2016
Received in revised form:
February 26,
2016
Received:
December 14,
2015
Identification
Copyright
© 2016 Elsevier Ltd. All rights reserved.
