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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 15 Apr 2015.

MutL homolog 1, colon cancer, nonpolyposis type 2

MLH1, hMLH1
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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] (from NCBI)
Top mentioned proteins: MSH2, MSH6, HAD, PMS2, AGE
Papers using MLH1 antibodies
Long-term stability of large insert genomic DNA episomal shuttle vectors in human cells.
Supplier
Navarro Alfons, In PLoS ONE, 1998
... For MLH1 and C1S2 methylation analysis, cells were treated with 34, 67 or 134 nM gemcitabine (Eli Lilly) or 43 nM etoposide (Sigma Aldrich) for 18 h or with ...
Chromosomal influence on meiotic spindle assembly: abnormal meiosis I in female Mlh1 mutant mice
Supplier
Schulz Rüdiger W. et al., In Cell and Tissue Research, 1998
... For MLH1 detection, a mouse monoclonal anti-human MLH1 antibody (BD Biosciences Pharmingen, Franklin Lake, N.J.) ...
A drying-down technique for the spreading of mammalian meiocytes from the male and female germline
Supplier
Hawley R Scott, In PLoS Genetics, 1996
... (γ-H2AX) (Upstate, 05–636) at a 1:3,000 dilution; rabbit anti-RAD51 (Calbiochem, PC130) at a 1:50 dilution; mouse monoclonal anti-MLH1 (Pharmingen, 551091 ) at a 1:10 dilution; and a human anti-centromere serum that recognizes centromeric proteins (Antibodies Incorporated, 15–235) at a 1:100 dilution ...
Papers on MLH1
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
New
Pai et al., Pittsburgh, United States. In Am J Surg Pathol, 10 May 2015
We analyzed the clinical and pathologic features of patients with tumors demonstrating isolated loss of PMS2 expression in an attempt to (1) determine the frequency of germline MLH1 and PMS2 mutations and (2) correlate mismatch-repair protein immunohistochemistry and tumor histology with germline mutation results.
PMS2 monoallelic mutation carriers: the known unknown.
Review
New
Lindor et al., Rochester, United States. In Genet Med, 09 May 2015
UNASSIGNED: Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome.
Defective DNA Mismatch Repair Influences Expression of Endometrial Carcinoma Biomarkers.
New
Broaddus et al., Houston, United States. In Int J Gynecol Pathol, 02 May 2015
Loss of immunohistochemical expression of MLH1, MSH2, MSH6, or PMS2 was defined as MMR deficient; positive expression was defined as MMR intact.
DNA mismatch repair enzymes: genetic defects and autoimmunity.
Review
New
Akiyama et al., Nagoya, Japan. In Clin Chim Acta, 10 Apr 2015
The human MutS enzymes consist of MSH2, MSH3 and MSH6, and the human MutL enzymes include MLH1, MLH3, PMS1 and PMS2.
Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis.
New
Impact
Win et al., Melbourne, Australia. In J Clin Oncol, Mar 2015
RESULTS: We pooled estimates from analyses of 1,114 Lynch syndrome families (508 with MLH1 mutations and 606 with MSH2 mutations).
Genomic assays for Epstein-Barr virus-positive gastric adenocarcinoma.
Review
New
Gulley, Chapel Hill, United States. In Exp Mol Med, Dec 2014
The EBV-positive class has even more marked CpG methylation than does the MSI class, and viral cancers have a unique pattern of methylation linked to the downregulation of CDKN2A (p16) but not MLH1.
Muir-Torre syndrome.
Review
New
Brown et al., Jackson, United States. In Arch Pathol Lab Med, Dec 2014
Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mismatch repair genes result in microsatellite instability.
Immunohistochemical analysis of mismatch repair proteins in colorectal adenomas.
New
Zermani et al., In Tunis Med, Oct 2014
This system consists mainly of four proteins: MLH1, MSH2, MSH6 and PMS2.
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
New
Impact
Ford et al., San Francisco, United States. In J Clin Oncol, Aug 2014
Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
New
Impact
InSiGHT et al., In Nat Genet, Feb 2014
The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2.
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
New
Impact
Spurdle et al., Adelaide, Australia. In J Clin Oncol, Feb 2014
Tumor MLH1 methylation was detected in 99 (89%) of 111 cases demonstrating MLH1/PMS2 IHC loss; all were germline MLH1 mutation negative.
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).
Review
Win et al., Melbourne, Australia. In Appl Clin Genet, 2013
However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter.
Quantitative methodology is critical for assessing DNA methylation and impacts on correlation with patient outcome.
Dobrovic et al., Melbourne, Australia. In Clin Epigenetics, 2013
In contrast to much of the literature, either no or infrequent locus-specific methylation was identified by MS-HRM for DAPK1, RASSF1A, MGMT, MLH1, APC, CDH1, CDH13, BRCA1, ERCC1, and ATM.
Practical genetics of colorectal cancer.
Shaw et al., Omaha, United States. In Chin Clin Oncol, 2013
Lynch syndrome is attributable to DNA mismatch repair germline mutations, with the MSH2, MLH1, MSH6, and PMS2 genes being implicated.
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.
Impact
Eng et al., Cleveland, United States. In J Clin Oncol, 2013
In approaches 2 and 3, patients were presumed to have sporadic CRC if the tumor lacked MLH1 expression and was also BRAF mutated or if the patient was diagnosed at age greater than 72 years and had no cancer family history.
The unstructured linker arms of Mlh1-Pms1 are important for interactions with DNA during mismatch repair.
GeneRIF
Alani et al., Ithaca, United States. In J Mol Biol, 2012
Cleavage of the Mlh1 linker arm in vitro resulted in a defect in Mlh1-Pms1 DNA binding activity, and in vivo proteolytic cleavage resulted in a complete defect in DNA mismatch repair .
Evaluation of microsatellite instability, MLH1 expression and hMLH1 promoter hypermethylation in colorectal carcinomas among Tunisians patients.
GeneRIF
Bouraoui et al., Tunis, Tunisia. In Tunis Med, 2012
Our study showed that MSI-H phenotype was mucinous, right-side and exhibit stade III of TNM. The relative correlation of MLH1 expression and promotor hypermethylation of hMLH1 for the MSI status is similar to that reported for several study
Case-case study of factors associated to hMLH1, hMSH2, and hMSH6 protein expression among endometrial cancer patients of the University District Hospital of San Juan, Puerto Rico.
GeneRIF
Cruz-Correa et al., San Juan, Puerto Rico. In Int J Gynecol Cancer, 2012
Loss of hMLH1 is associated with endometrial cancer.
Novel germline MLH1 and MSH2 mutations in Latvian Lynch syndrome families.
GeneRIF
Miklaševičs et al., Rīga, Latvia. In Exp Oncol, 2011
The mutations in the MLH1 and MSH2 genes in Latvian Lynch syndrome high-risk families are highly heterogeneous.
Association between p16, hMLH1 and E-cadherin promoter hypermethylation and intake of local hot salted tea and sun-dried foods in Kashmiris with gastric tumors.
GeneRIF
Aejaz et al., India. In Asian Pac J Cancer Prev, 2011
MLH1 promoter hypermethylation and intake of local hot salted tea and sun-dried foods are associated with gastric tumors.
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