In addition to the detected SVs, we have found a third complex PV in patient #38 as a result of two rare SNVs within 4 base pairs in MSH2. The proband was diagnosed with MSH2- and MSH6-deficient colorectal cancer at the age of 33 years with more LS-related cancer occurrences in the pedigree (Fig. 4A). The gene discussed is MSH6; the disease is cancer.