Mutations in BRCA1 and BRCA2 genes are highly associated with increased risk of breast and ovarian cancer among women. In men, presence of between BRCA2 mutations has been shown to be associated with an increased risk of prostate cancer and overall poor prognosis. Early detection is key in successful treatment of prostate cancer, and prostate specific antigen (PSA) levels are currently the most effective prostate cancer biomarker. The ongoing IMPACT study is evaluating PSA screening as a tool for early detection of prostate cancer among 2932 men, the majority of whom carried BRCA1 or BRCA2 mutations. Interim results from this study were recently published in European Urology.
After 3 years of follow-up, a total of 527 men (17.9%) with PSA levels > 3.0 ng/mL had been identified and 112 cases of prostate cancer (3.8%) were diagnosed. Prostate cancer primarily occurred among BRCA carriers (78 carriers versus 34 non-carriers). Furthermore, cancer incidence rate per 1000 person years was highest in patients with BRCA2 mutations compared to patients who did not have BRCA mutations (19.4 vs 12.0; P = .03). Patients with BRCA2 mutations were more likely to be diagnosed at a younger age (61 years vs 64 years; P = .04) and were more likely to have intermediate or high-risk disease compared to non-carriers (77% vs 40%; P = .01). There were no differences between BRCA1 mutation carriers and noncarriers in rates or severity of prostate cancer.
The investigators concluded that BRCA2 mutations were associated with a higher rate of serious prostate cancer, occurring at a younger age, while the relationship between BRCA1 mutation and prostate cancer remains unclear. Annual screening for prostate cancer using PSA level should be considered for patients with BRCA2 mutations.
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