Table 8.
Expert consensus on recommending BRCA genetic testing for breast cancer patients
| Expert consensus on recommending BRCA genetic testing for breast cancer patients | |
|
•Has known deleterious mutations of the BRCA1/2 gene in the family •History of breast cancer meeting the following criteria: Age at diagnosis ≤ 45 years Age at diagnosis: 46-50 years ▶ Second primary breast cancer ▶ ≥ 1 immediate family member diagnosed with breast cancer, regardless of age at diagnosis ▶ ≥ 1 immediate family member diagnosed with high-grade prostate cancer (Gleason score ≥ 7) ▶ Limited or unknown family history of triple-negative breast cancer diagnosed at age ≤ 60 regardless of age, but meeting any of the following criterion: ▶ ≥ 1 immediate family member meeting one of the following criteria: Age ≤ 50 at diagnosis of breast cancer or ovarian cancer, or male breast cancer, or metastatic prostate cancer, or pancreatic cancer ▶ ≥ 2 patients or immediate family members diagnosed with breast cancer •History of ovarian cancer •History of male breast cancer •History of pancreatic cancer •History of metastatic prostate cancer •History of high-grade prostate cancer (Gleason score ≥7) regardless of age and meeting one of the following criteria: ▶ ≥1 immediate family member diagnosed with ovarian cancer, pancreatic cancer, or metastatic prostate cancer regardless of age at diagnosis or with breast cancer at age ≤ 50 ▶ ≥2 immediate family members diagnosed with breast cancer or prostate cancer (any grade), regardless of age at diagnosis •BRCA1/2 deleterious mutations found in the tumor and with unknown germline mutation status •Regardless of family history, BRCA mutation–associated cancers benefit from targeted therapy (e.g., PARP inhibitor therapy for ovarian cancer/metastatic HER2-negative breast cancer, platinum-based chemotherapy for prostate cancer) •Individuals who do not meet the above criteria but have ≥ 1 first- or second-degree relative who meets any of the above criteria. Interpretation of test results for noncarriers (BRCA1/2 deleterious mutations) has limitations and needs to be fully discussed |
Note: Further risk assessment, genetic counseling, and genetic testing and management should be considered if one or more of the above criteria are met. Genetic test results of individuals with only a family history should be interpreted with caution, as the results may have significant limitations