Fig. 1

Representation of the different percentages of patients defined by the different types of mutation according to the Hereditary Cancer Syndrome. a For HBOC, the mutation rates for patients with PV in BRCA1 and BRCA2 genes (3%) was significantly lower than the 11% represented by PV in ATM, BLM, BRIP1 and MUTYH genes, which were not screened routinely for HBOC. A total of 53 of the cases carried 1, 2, 3 or more (up to 6) VUS. In the 33% of the analyzed samples, we did not find any relevant variant (negatives); b For HNPCC, the mutation rates for patients with PV in the MMR genes (9%) was significantly higher than the PV identified in other different genes, which in this case only refers to CHEK2. A total of 58% of the cases carried 1, 2, 3 or more (up to 5) VUS. In 30% of the analyzed samples, we did not find any relevant variant