abstract
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).
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