Pathology

 MLH1, MSH2 and MSH6 mutations underlie high-penetrance colorectal cancer susceptibility in hereditary nonpolyposis colon cancer (HNPCC)
 MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer (#15184898#)
 Germline epimutation of MLH1 in individuals with multiple cancers #15064764#

References

 Simpson AJ, Caballero OL, Pena SD. Microsatellite instability as a tool for the classification of gastric cancer. Trends Mol Med. 2001 Feb;7(2):76-80. PMID: #11286759#