Patients whose personal or family history indicates a high likelihood of BRCA mutation (lBRCAm) should be offered BRCA testing after genetics information has been acquired and discussed with a genetics specialist.
Consider testing in patients with moderate lBRCAm, with specificities of the family history and personal criteria taken into account. A dedicated and personalized genetic consultation should be provided to discuss issues with the patient.
When there is a known familial mutation, genetic counseling prior to a BRCA predictive test, as well as after, is highly recommended.
Germline BRCA mutation (gBRCAm) testing is recommended for metastatic breast cancer patients who require chemotherapy, since, in platinum-naïve patients, platinum chemotherapy should be preferred to taxane.
Germline BRCAm testing is recommended in human epidermal growth factor receptor 2 (HER2)–negative metastatic breast cancer because, for women with gBRCAm, clinicians should offer olaparib or talazoparib as an alternative to first- to third-line chemotherapy.
The following patients should be offered BRCA testing for poly(adenosine diphosphate–ribose polymerase) inhibitor (PARPi) theragnostic purposes: those with HER2-negative metastatic breast and castrate-resistant prostate cancer, patients with platinum-sensitive metastatic pancreatic cancer, and those with newly diagnosed FIGO (International Federation of Gynecology and Obstetrics) stage III/IV or recurrent high-grade epithelial ovarian cancer. The testing should be offered in a fast-track process after provision of specific genetic information.
Because 10-75% of patients with breast, ovarian, prostate, or pancreatic cancer, and gBRCAm, do not fulfill the criteria for moderate or high lBRCAm, BRCA testing is recommended for targeted treatment with PARPi agents regardless of whether those criteria exist.
Consider tumor sample cellularity, depth of coverage, ability to detect long-scale rearrangement, and variant allele fraction when interpreting tumor DNA sequencing outcomes. Preference should be given to techniques and pipelines, such as next-generation sequencing, that permit single nucleotide variant (SNV) and copy number variation (CNV) detection.
Any patient in whom pathogenic tumor BRCAm is likely or has been identified should be offered germline testing.
Pathogenic or likely pathogenic variants, but not variants of unknown significance (VUS), should form the basis of clinical decisions, including with regard to preventive issues, management of breast cancer, and PARPi treatment.
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Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: BRCA Testing Clinical Practice Guidelines (SFMPP, 2021) - Medscape - Apr 01, 2021.