Lee · Medicina (Kaunas, Lithuania) 2021 · systematic review and meta-analysis of cohort studies · n=12 studies

BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies.

Cited 49 times in the scientific literature.

Level 3 - non-randomized controlled study

Systematic review and meta-analysis of observational cohort studies

PubMed 34577828 · doi:10.3390/medicina57090905 · record verified 2026-08-26

What was done

Authors conducted a systematic review and meta-analysis of cohort studies indexed in PubMed and Medline (EBSCOhost) through May 10, 2021, evaluating the association between BRCA1 and BRCA2 mutations and various cancers (excluding lung cancer). Odds ratios, standardized morbidity rates, and cancer-specific standardized incidence ratios were pooled together as relative risk (RR) estimates.

What was found

Twelve cohort studies were included. BRCA mutations increased the risk of pancreatic cancer by around 3- to 5-fold and uterine cancer by around 1.5-fold. BRCA2 mutation significantly increased gastric cancer risk (RR = 2.15, 95% CI: 1.98–2.33). BRCA mutation did not increase the risk of brain cancer, colorectal cancer, prostate/bladder/kidney cancer, cervical cancer, or malignant melanoma.

Why it matters

This review clarifies non-breast and non-ovarian cancer risks in BRCA mutation carriers, identifying specific elevated risks for pancreatic, uterine, and gastric cancers that can inform clinical counseling and surveillance strategies.

Limits

The analysis pooled heterogeneous effect metrics (odds ratios, standardized incidence ratios, and standardized morbidity rates) into a single composite relative risk measure. Total participant counts, between-study heterogeneity, confidence intervals for non-gastric cancers, and specific BRCA1 versus BRCA2 differences across all cancer types were not reported in the abstract. Lung cancer was deliberately excluded from the search.

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