- MLH1
MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), also known as MLH1, is a human
gene . MLH1 is agene commonly associated withhereditary nonpolyposis colorectal cancer .PBB_Summary
section_title =
summary_text = This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined. [cite web | title = Entrez Gene: MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4292| accessdate = ]It can also be associated with
Turcot syndrome .References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Paraf F, Sasseville D, Watters AK, "et al." |title=Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome. |journal=Hum. Pathol. |volume=26 |issue= 4 |pages= 422–7 |year= 1995 |pmid= 7705822 |doi=
*cite journal | author=Kolodner RD |title=Mismatch repair: mechanisms and relationship to cancer susceptibility. |journal=Trends Biochem. Sci. |volume=20 |issue= 10 |pages= 397–401 |year= 1996 |pmid= 8533151 |doi=
*cite journal | author=Peltomäki P, de la Chapelle A |title=Mutations predisposing to hereditary nonpolyposis colorectal cancer. |journal=Adv. Cancer Res. |volume=71 |issue= |pages= 93–119 |year= 1997 |pmid= 9111864 |doi=
*cite journal | author=Papadopoulos N, Lindblom A |title=Molecular basis of HNPCC: mutations of MMR genes. |journal=Hum. Mutat. |volume=10 |issue= 2 |pages= 89–99 |year= 1997 |pmid= 9259192 |doi= 10.1002/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H |doilabel=10.1002/(SICI)1098-1004(1997)10:289::AID-HUMU13.0.CO;2-H
*cite journal | author=Kauh J, Umbreit J |title=Colorectal cancer prevention. |journal=Current problems in cancer |volume=28 |issue= 5 |pages= 240–64 |year= 2004 |pmid= 15375803 |doi=
*cite journal | author=Warusavitarne J, Schnitzler M |title=The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer. |journal=International journal of colorectal disease |volume=22 |issue= 7 |pages= 739–48 |year= 2007 |pmid= 17109103 |doi= 10.1007/s00384-006-0228-0
*cite journal | author=Niv Y |title=Microsatellite instability and MLH1 promoter hypermethylation in colorectal cancer. |journal=World J. Gastroenterol. |volume=13 |issue= 12 |pages= 1767–9 |year= 2007 |pmid= 17465465 |doi=ee also
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Mismatch_repair#MutH External links
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