Pathogenic Germline Variants in a Racially Diverse Real-World Cohort of Patients With Prostate Cancer

PGV prevalence and characteristics (BRCA2, ATM, CHEK2, HOXB13) in a prospective multiethnic prostate cancer cohort

Germline pathogenic variant prevalence and clinicopathologic associations in prostate cancer risk genes are studied in a real-world multiethnic cohort. Most frequently mutated genes include BRCA2, ATM, CHEK2, and HOXB13, with significant inter-ethnic differences. BRCA2 variant carriers present with higher histologic grade and more advanced stage. These data inform genetic testing practices in prostate cancer, particularly for racial minorities underrepresented in published studies.

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Genetic testing recommendations in prostate cancer (BRCA2, ATM, CHEK2) are primarily based on European cohorts. This real-world multiethnic cohort study shows different prevalences by origin, underscoring the need to adapt screening criteria for non-European populations, particularly African American.

Clinical impact: 2/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 8/10