There were many variants appearing 3 or more times only in cancer and/or high-risk subjects which should be considered to be potential PVs (TP53 c.799C>, APC c.3183_3187delACAAA, ATM c.1516G>T, BRCA2 c.3170_3174del, c.122C>T, c.5909C>T and c.5557dup, CDKN2A c.238C>T, MSH2 c.1964del, MSH6 c.733A>T deletion of the whole of exon 16 of MLH1, MUTYH c.544C>T and c.734G>A, and PALB2 c.1102A>T). This evidence concerns the gene MLH1 and cancer.