BRCA1

Also known as breast cancer gene 1

Tumour types

breast cancer, ovarian cancer, pancreatic cancer, prostate cancer

BRCA1 encodes a tumor suppressor involved in homologous recombination DNA repair; pathogenic germline variants confer elevated lifetime risk of breast and ovarian cancer.

Pathogenic/likely pathogenic variants (germline or somatic) are the clinically actionable finding; variants of uncertain significance are not treated as actionable.

Clinical significance

Deleterious germline BRCA1 mutation status is used to select patients with HER2-negative breast cancer or ovarian cancer for PARP inhibitor therapy.
fda — FDA-approved product labeling for PARP inhibitors

FDA-approved treatments

Lynparza (olaparib) — Germline BRCA-mutated, HER2-negative high-risk early breast cancer (adjuvant) and metastatic breast cancer; germline or somatic BRCA-mutated advanced ovarian cancer (maintenance and treatment settings); germline BRCA-mutated metastatic pancreatic cancer (maintenance); HRR gene-mutated (including BRCA) metastatic castration-resistant prostate cancer [fda]
Talzenna (talazoparib) — Germline BRCA-mutated, HER2-negative locally advanced or metastatic breast cancer [fda]

Prevalence

Pathogenic germline BRCA1 variants are found in approximately 5% of unselected breast cancers and up to 15% of ovarian cancers. [fda]

Tests / detection method

germline genetic testing, somatic NGS

Therapeutic pipeline

Next-generation PARP1-selective inhibitors [fda]

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