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The 2024 American guideline says every woman diagnosed with breast cancer at 65 or under should be offered BRCA1/2 testing, as should anyone who might be treated with a PARP inhibitor, whatever her family history.
An ASCO-SSO panel developed recommendations from a systematic review (47 articles on testing, 18 on counselling) and formal consensus. BRCA1/2 testing should be offered to all newly diagnosed patients at 65 or under and to selected older patients based on personal or family history, ancestry or PARP inhibitor eligibility; to all patients with recurrent breast cancer who are PARP inhibitor candidates regardless of family history; to women with a second primary in either breast; and to previously treated patients diagnosed at 65 or under. Testing beyond BRCA1/2 for high-penetrance genes should follow supportive family history, and moderate-penetrance testing may be offered to inform risk. Variants of uncertain significance should not change management.
For TNBC, which is diagnosed young and is the PARP inhibitor-eligible subtype, the guideline makes germline testing part of the diagnostic workup rather than a referral decision.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Talazoparib, Germline BRCA mutation (gBRCA), Germline vs somatic mutations.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Talazoparib, Germline BRCA mutation (gBRCA), Germline vs somatic mutations.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Journal of Clinical Oncology.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline vs somatic mutations, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Breast cancer (all types), Triple-negative breast cancer (TNBC).