PMS2 and Lynch syndrome: Lynch syndrome is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes: MutL homolog 1 (MLH1), MutS homolog 6 (MSH6), and post-meiotic segregation 2 (PMS2) or loss of expression of MutS homolog 2 (MSH2) due to deletion in the EPCAM. Large deletions in the EPCAM gene causes transcriptional read-through into the neighboring MSH2 gene, followed by epigenetic silencing [41].