Highlights
- •Offer BRCA genetic testing to all invasive epithelial OC patients (excluding borderline and mucinous cancers).
- •Testing should be irrespective of age.
- •Ideally offer testing at diagnosis, although patients can be referred at any stage.
- •Retrospective testing should be offered to patients in long-term follow-up.
- •Tumour testing should be considered in non-germline-mutated patients.
Abstract
Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future
risk of developing cancer and patients have been referred for testing based on family
history. However, the now recognised risk of ovarian cancer (OC) patients, even those
with no known family history, harbouring a mutation in BRCA1/2, together with the first poly adenosine diphosphate ribose polymerase inhibitor (PARPi;
olaparib [Lynparza]) being licenced for the treatment of BRCA-mutated OC, has led to reconsideration of referral criteria for OC patients. Provided
here is a review of the existing data and guidelines in the European Union, relating
to recommendations, as well as considerations, for the referral of OC patients for
BRCA genetic testing. Based on this review of newly updated guidance and up-to-date evidence,
the following is recommended: all patients with invasive epithelial OC (excluding
borderline or mucinous), including those with fallopian tube and peritoneal cancers,
should be considered as candidates for referral for BRCA genetic testing, irrespective of age; genetic testing should ideally be offered at
diagnosis, although patients can be referred at any stage; retrospective testing should
be offered to patients in long-term follow-up because of the implications for family
members and individual future breast cancer risk; and germline BRCA testing of a blood/saliva sample should initially be conducted and, if negative,
tumour tissue should be tested (to identify non-germline [somatic] BRCA PARPi therapy candidates).
Keywords
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Article info
Publication history
Published online: November 04, 2016
Accepted:
October 5,
2016
Received:
September 29,
2016
Identification
Copyright
© 2016 Elsevier Ltd. All rights reserved.
