PMS2 and colorectal carcinoma: In patient #10, we identified an SV affecting MLH1. The proband developed colorectal cancer (CRC) at the age of 22 years, with familial predisposition and molecular pathological analysis (decreased MLH1 and PMS2 protein expressions in both the proband and her mother’s CRC) both indicative of LS (Table 1 and Fig. 2A).