MLH is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (HNPCC2) (MIM.609310).
Pathology
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1.
MLH1 germline mutations
- high-penetrance colorectal cancer susceptibility in hereditary nonpolyposis colon cancer locus 2 (HNPCC2) (MIM.609310)
-
mismatch repair cancer syndrome (MIM.276300)
- tumors
- ependymoma
- glioblastoma
- oligodendroglioma
- neuroblastoma
- astrocytoma
- medulloblastoma
- basal cell carcinoma
- colorectal adenocarcinoma
- leukemia
- lymphoma
MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer (15184898)
germline epimutation of MLH1 in
- multiple cancers 15064764
- familial prostate cancer (16963262)
Mutations
c.666dupA (16955466)
See also
Reviews
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
References
Plasilova M, Zhang J, Okhowat R, Marra G, Mettler M, Mueller H, Heinimann K. A de novo MLH1 germ line mutation in a 31-year-old colorectal cancer patient. Genes Chromosomes Cancer. 2006 Dec;45(12):1106-10. PMID: 16955466