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. 2022 Jul 5;1(1):7. doi: 10.1007/s44178-022-00007-8

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