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A novel heterozygous germline mutation (c.3G>T, p.Met1Ile) in MLH1 gene was discovered by next generation sequencing.
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Mutational analysis of the MLH1/MSH2 genes was carried out. Analysis was extended to the family members and the general population. This led to the identification of a heterozygous frameshift duplication in the MLH1 gene at position 910 (c.910dupG). Three siblings had inherited the mutation from their mother, two of whom were asymptomatic at the time of diagnosis.
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Lynch syndrome associated MLH1 c.2059C>T mutation is a Swedish founder mutation with a probable origin in a single founder individual in the north of Sweden, whose descendants have migrated southwards in Sweden as well as across the border to Finland.
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Inconsistent with previous meta-analyses, this meta-analysis shows that the hMLH1 655A>G and 1151T>A polymorphisms might be risk factors for colorectal cancer. Moreover, the -93G>A polymorphism is associated with the susceptibility of colorectal cancer in Asian population.
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Hypomethylation of MLH1 gene is associated with chemotolerance of breast carcinoma.
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Low MLH1 expression is associated with Colonic Adenoma and Adenocarcinoma.
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Single-Nucleotide Polymorphisms of the MLH1 is associated with Basal Cell Carcinoma.
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this meta-analysis suggested that hMLH1 methylation was associated with an increased CRC risk.
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The DNA mismatch repair gene (MMR) plays an important role in anti-carcinogenesis and MMR gene deficiency.
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Study investigated the counteraction of oxidative stress by vitamin E in the colorectal cancer cell line Caco-2 under normal and high glucose cell culture condition. Gene expression and promoter methylation of the DNA repair gene MutL homolog 1 (MLH1) and the DNA methyltransferase 1 (DNMT1) were investigated. Induction of MLH1 and DNMT1 gene expression was noticed, accompanied by an increase in global methylation.
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the results identified for the first time a MLH1 missense mutation (NM_000249.3:p.Tyr379Ser/c.1136A>C) in a Chinese family with Gardner syndrome (GS), thus broadening the range of mutated genes associated with GS.
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This study demonstrated that Aberrant methylation of mutL homolog 1 is associated with increased risk of non-small cell lung cancer
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MLH1's ATPase domain has a crucial role in preventing the aberrant formation of telomeric sequences at the intra-chromosomal regions and preserving genome stability.
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provide evidence that four of the alterations in MLH1 are causative for Lynch syndrome, four are likely neutral and one shows compromised activity which can currently not be classified with respect to its pathogenic potential
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This pilot study indicates oligozoospermic patients have more methylation of MLH1 than normozoospermic patients.
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MLH1 and PMS2 can be imported to the nucleus by a classical nuclear import pathway
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The MLH1-93 AA genotype is significantly associated with promoter hypermethylation and MLH1 loss in the context of Sessile serrated adenoma of dysplasia. BRAF mutant microsatellite stable colorectal cancers with the AA genotype most likely arise in traditional serrated adenomas since the A allele does not predispose to methylation in this context.
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Cancer developed more often in mutation carriers, with no consistent difference between MLH1 and MSH2 carriers. More polyps (mostly adenomas) were detected in MLH1 carriers. The majority (13 of 21) of malignant tumours occurred in organs for which there is no recommended surveillance, and were lethal in three patients.
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Data suggest that the concurrent mutations of the adenomatous polyposis coli protein (APC) and mutL protein homolog 1 (MLH1) genes probably underline the familial adenomatous polyposis (FAP) in the pedigree.
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Among 13 gastric tumors showing no hMLH1 or hMSH2 expression, 8 MSI-H (high) and 5 MSI-L (low) were identified.
