The top five affected genes (containing nearly 80% of variants) were the well-known germline drivers CHEK2, BRCA2, MUTYH, BRCA1 and ATM. The corresponding wild-type alleles were found to be lost in the tumour sample in more than half of the cases, either by LOH or somatic point mutation, indicating a high penetrance for these variants, particularly in BRCA1 (89% of cases), APC (83%) and BRCA2 (79%). Here, BRCA1 is linked to neoplasm.