PALB2 mutations and prostate cancer risk and survival

Background The objective of this study was to establish the contribution of PALB2 mutations to prostate cancer risk and to estimate survival among PALB2 carriers. Methods We genotyped 5472 unselected men with prostate cancer and 8016 controls for two Polish founder variants of PALB2 (c.509_510delGA and c.172_175delTTGT). In patients with prostate cancer, the survival of carriers of a PALB2 mutation was compared to that of non-carriers. Results A PALB2 mutation was found in 0.29% of cases and 0.21% of controls (odds ratio (OR) = 1.38; 95% confidence interval (CI) 0.70–2.73; p = 0.45). PALB2 mutation carriers were more commonly diagnosed with aggressive cancers of high (8–10) Gleason score than non-carriers (64.3 vs 18.1%, p