Pathogenic variants (PVs) in BRCA1 and BRCA2 are associated with an increased risk of several cancers aside from female breast and ovarian cancer, according to a study published in the Journal of Clinical Oncology.

Researchers found that BRCA1/2 PVs were associated with an increased risk of male breast, pancreatic, and stomach cancers, among others.

The researchers noted that several studies have suggested potential associations between BRCA1/2 mutations and cancers other than female breast and ovarian cancer, but these associations were based on relatively small sample sizes.

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The researchers therefore conducted a large study to assess associations between BRCA1/2 PVs and 22 different cancers. The team analyzed data from 5341 families with at least 1 family member who had a BRCA1 or BRCA2 PV. The cohort included 3184 BRCA1 families and 2157 BRCA2 families.

The most common cancers in the data set (aside from breast and ovarian cancers) were prostate, lung, colorectal, stomach, and pancreatic cancers.

BRCA1 PVs were associated with an increased risk of male breast cancer (relative risk [RR], 4.30; 95% CI, 1.09-16.96), gallbladder cancer (RR, 3.34; 95% CI, 1.34-8.28), pancreatic cancer (RR, 2.36; 95% CI, 1.51-3.68), stomach cancer (RR, 2.17; 95% CI, 1.25-3.77), and colorectal cancer (RR, 1.48; 95% CI, 1.01- 2.16).

BRCA2 PVs were associated with an elevated risk of male breast cancer (RR, 44.0; 95% CI, 21.3-90.9), stomach cancer (RR, 3.69; 95% CI, 2.40-5.67), pancreatic cancer (RR, 3.34; 95% CI, 2.21-5.06), and prostate cancer (RR, 2.22; 95% CI, 1.63-3.03).

“[T]his study confirms that, aside from female breast and ovarian cancers, BRCA1/2 PVs are associated with increased risks of breast cancer in men, and pancreatic and stomach cancers in both sexes, and that only BRCA2 carriers are at elevated prostate cancer risk,” the researchers concluded.

Disclosures: Some study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of disclosures.


Li S, Silvestri V, Leslie G, et al. Cancer risks associated with BRCA1 and BRCA2 pathogenic variants. J Clin Oncol. Published online January 25, 2022. doi:10.1200/JCO.21.02112