BRCA2

Also known as breast cancer gene 2, FANCD1

Tumour types

breast cancer, ovarian cancer, pancreatic cancer, prostate cancer

BRCA2 encodes a tumor suppressor with a central role in homologous recombination DNA repair, functionally related to BRCA1 but genetically distinct.

As with BRCA1, pathogenic/likely pathogenic variants are the actionable finding; biallelic BRCA2 loss is also linked to Fanconi anemia complementation group D1.

Clinical significance

Deleterious germline or somatic BRCA2 mutation status is used to select patients with ovarian cancer, HER2-negative breast cancer, pancreatic cancer, or prostate 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 BRCA2 variants are found in approximately 5% of unselected breast cancers and are also associated with elevated risk of ovarian, pancreatic, and prostate cancer. [fda]

Tests / detection method

germline genetic testing, somatic NGS

Therapeutic pipeline

Next-generation PARP1-selective inhibitors [fda]

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