MLH1

(redirected from hMLH1)

MLH1

A human homologue of the Escherichia coli DNA mismatch repair gene on 3p21.3, which encodes an enzyme that scans newly replicated DNA for errors and repairs mismatched base pairs.

Molecular pathology
A germline mutation of MLH1 occurs in ± 1% of patients with hereditary nonpolyposis colon cancer; defects in MLH1 also cause mismatch repair cancer syndrome, Muir-Torre syndrome and susceptibility to endometrial cancer.
References in periodicals archive ?
Para nuestro estudio, se seleccionaron genes supresores de tumores de diferentes vias metabolicas relacionados con el ciclo celular, entre ellos tenemos; Inhibidores de kinasas dependientes de ciclina, el CDKN2B (p15) y CDKN2A (p16), un inhibidor de las [beta] cateninas, el APC (Adenomatous Poliposis Coli), el gen hMLH1 (Human Mut Homologue 1) probablemente el mas importante de los genes reparadores de ADN genomico, relacionado con inestabilidad microsatelital y el gen CDH1 (Caderina E), que codifica una proteina transmembrana que participa en el complejo de moleculas de adhesion involucrada en la metastasis e invasion tumoral (8,9).
Reversal of drug resistance in human tumor xenografts by 2'-deoxy-5-azacytidineinduced demethylation of the hMLH1 gene promoter.
Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients.
Objective: We aimed to explore the association of P16 MGMT and HMLH1 with gastric cancer and their relation with Methylenetetrahydrofolate reductase (MTHFR).
which detects absence of the hMLH1 gene product on all resected colorectal cancers.
at genes called hMLH1, MGMT, and BRCA1) and cell cycle control (e.
Instead they arise by a process of alterations in DNA mismatch repair genes, commonly hMLH1 and hMSH2, giving rise to the status of micro-satellite instability (MSI).
Hypermethylation of the promoter of hMLH1 and subsequent microsatellite instability occurs in approximately 12% of sporadic colorectal cancers (CRC).
El sistema MMR esta conformado por siete genes de reparacion: hMLH1, hMLH3, hMSH2, hMSH3, hMSH6, hPMS1 y hPMS2 (8,12).
Immunohistochemistry for hMLH1 and hMSH2: A Practical test for DNA Mismatch Repair-Deficient Tumors.
The role of hMLH1, hMSH3, and hMSH6 defects in cisplatin and oxaliplatin resistance: correlation with replicative bypass of platinum-DNA adducts.
11) Generally speaking, non-heritable colorectal carcinomas occur as a result of a chromosomal instability pathway involving mutations in the APC, K-ras (Kirsten rat sarcoma), TP53 (tumor suppressor protein-53) and DCC (a transmembrane receptor protein) genes or from an instability pathway involving mutations in short repetitive stretches of DNA called microsatellites or from a disruption of the DNA repair gene hMLH1.