Interestingly, mutations in POLD1 are—apart from colorectal and endometrial cancer (Rayner et al, 2016)—also associated with a rare human disorder termed mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome (Reinier et al, 2015). The gene discussed is POLD1; the disease is endometrial cancer.