Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients.
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).
Leuven Cancer Institute, KU, Leuven, European Union, Belgium. Electronic address: ignace.vergote@uzleuven.be.
Ignace
I
Vergote
The Royal Marsden NHS Foundation Trust, London, UK.
Susana
S
Banerjee
Department of Clinical Genetics, Copenhagen University Hospital, Denmark.
Anne-Marie
AM
Gerdes
Department of Clinical Genetics, Leiden University Medical Center, Netherlands.
Christi
C
van Asperen
Innsbruck Medical University, Austria.
Christian
C
Marth
Portuguese Institute of Oncology, Lisbon, Portugal.
Fatima
F
Vaz
Department of Medical Oncology, CRLCC Léon Bérard, University Claude Bernard Lyon, France.
Isabelle
I
Ray-Coquard
Institut Curie, Department of Tumour Biology, Paris, France; Charité University of Medicine Berlin, Germany; University of Milan-Bicocca, and European Institute of Oncology, Italy.
Dominique
D
Stoppa-Lyonnet
Institut Curie, INSERM U830, Paris, France.
Antonio
A
Gonzalez-Martin
Université Paris Descartes, Sorbonne Paris Cité, France.
Jalid
J
Sehouli
MD Anderson Cancer Center Madrid, Spain.
Nicoletta
N
Colombo
D000970:Antineoplastic Agents / Q000627:therapeutic use; D000077216:Carcinoma, Ovarian Epithelial; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005060:Europe; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing / Q000379:methods*; D018095:Germ-Line Mutation; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D009375:Neoplasms, Glandular and Epithelial / Q000188:drug therapy / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000188:drug therapy / Q000235:genetics*; D010793:Phthalazines / Q000627:therapeutic use; D010879:Piperazines / Q000627:therapeutic use; D017410:Practice Guidelines as Topic
D000970:Antineoplastic Agents; D004273:DNA, Neoplasm; D010793:Phthalazines; D010879:Piperazines; C531550:olaparib
BRCA1; BRCA2; Genetic testing; Guidelines; Ovarian cancer; PARPi