MLH1 and colorectal carcinoma: A total of 13 unique P/LPVs were identified in MLH1: 3 (23.1%) stop codon/frameshift variants (in exon 13), 4 (30.8%) missense variants (in exons 4, 10, 15, and 19), 4 (30.8%) intronic change (in exons 2, 6, 9 and 12), and 3 (23.1%) large deletions (from exons 1–6, 12–16, and 1–19), Figure 2A. Notably, the most common variant was c.1528C>T with a protein change p. (Gln510Ter) in exon 13, with 426 occurrences, primarily associated with CRC (n = 163) and a range of extracolonic cancers (n = 41), Figure 2B.