There are several reports of WGS being successfully implemented to implicate rare, high-penetrance germline variants in cancer, for example POT1 mutations in familial melanoma and Hodgkin lymphoma (Mcmaster et al., 2018; Wong et al., 2019) and POLE and POLD1 mutations in colorectal adenomas or carcinomas (Palles et al., 2013). This evidence concerns the gene POLE and familial melanoma.