BRCA testing guidelines

Who, what and how to test


Newly diagnosed and relapsed epithelial ovarian carcinoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.

"Patients with high-grade tumours should be tested for a germline BRCA mutation. Consideration should be given to testing tumours for a somatic BRCA mutation."REF


National Comprehensive Cancer Network Clinical Practical Guidelines. Genetic/familial high-risk assessment: breast and ovarian.

"The NCCN Panel recommends testing for patients with a personal history of ovarian carcinoma…diagnosed at any age."REF


American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers.

"Genetic counselling and testing should be considered, even in absence of family history [for] epithelial ovarian, fallopian tube, or primary peritoneal cancer."REF


Clinical Practice Statement: Genetic Testing for Ovarian Cancer.

"BRCA testing for all patients with epithelial ovarian, tubal and peritoneal cancers, even in the absence of a family history."REF

Interpretation and reporting

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).REF

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.REF

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) BRCA1/2 Gene Variant Classification Criteria.REF

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