MSH6 and neoplasm: Both missense MSH6 mutations (p.Asp439Gly and p.Tyr994Asn) are so far unreported, but could be classified as likely pathogenic at least in the context of CMMRD according to ACMG guidelines (25).The tumor spectrum of MSH6-deficient patients included Wilms tumor, two medulloblastomas, and two NHL, which relapsed in one patient and was preceded by a B-cell ALL in the other patient (Table 1).