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abstract
Review
19 May 2016Highlights
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- Over 10% of all women with epithelial ovarian cancer (EOC) have a germline BRCA mutation.
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- Applying referral criteria leads to missing BRCA mutation carriers.
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- We strongly recommend to refer all women with EOC for genetic testing.
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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