Multinational prospective prostate cancer screening program among carriers of pathogenic variants in MMR genes
Prof. Rosalind Eeles
Data are emerging that pathogenic variants in mismatch repair genes (MMR PVs) increase the risk of early-onset aggressive prostate cancer. In the multinational prospective IMPACT study, men with known MMR PVs and age-matched non-carrier controls undergo PSA screening, followed by biopsy if PSA is higher than 3.0 ng/ml. The first round of the program found 18 prostate cancer cases among 644 carriers of MMR PVs (2.8%) versus one case among 318 controls (0.3%). Prostate cancer incidence was higher among carriers of PVs in MSH2 and MSH6 compared to controls.