GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
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)
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Papers using
MLH1
antibodies
Chromosomal influence on meiotic spindle assembly: abnormal meiosis I in female Mlh1 mutant mice
Supplier
In Cell and Tissue Research, 1998
... For MLH1 detection, a mouse monoclonal anti-human MLH1 antibody (BD Biosciences Pharmingen, Franklin Lake, N.J.) ...
Long-term stability of large insert genomic DNA episomal shuttle vectors in human cells.
Supplier
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 ...
A drying-down technique for the spreading of mammalian meiocytes from the male and female germline
Supplier
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
The role of epigenetics in Lynch syndrome.
New
Australia. In Fam Cancer, 06 Apr 2013
In the past decade, the alternative mechanism of constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, was identified in a proportion of these outstanding cases.
[Serrated polyps of the duodenum : Three cases with immunohistological and molecular pathological findings.]
New
München, Germany. In Pathologe, 27 Mar 2013
No abnormal expression of MLH1 and β-catenin was found in any of the polyps.
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
New
Gif-sur-Yvette, France. In Nat Struct Mol Biol, 24 Mar 2013
These functions depend on MutL-homolog heterodimers with Mlh1.
Implementation of Universal Microsatellite Instability and Immunohistochemistry Screening for Diagnosing Lynch Syndrome in a Large Academic Medical Center.
New
Impact
Cleveland, United States. In J Clin Oncol, 11 Mar 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.ResultsAbnormal MSI/IHC results occurred in 178 (16%) of 1,108 patients.
[A novel genetic disorder of Lynch syndrome - EPCAM gene deletion].
Review
New
Nishinomiya, Japan. In Gan To Kagaku Ryoho, 28 Feb 2013
Germline mutations of 4 MMR genes, e.g., MLH1, MSH2, MSH6 and PMS2, had been identified as the cause of this disease, however, a novel mechanism, epigenetic inactivation of MSH2 gene due to hypermethylation of promotor region by the deletion of 3'part of epithelial cell adhesion molecule(EPCAM) gene which is located upstream of the MSH2 gene, has been reported in recent years.
Mismatch repair deficiency in colorectal cancer patients in a low-incidence area.
New
Cape Town, South Africa. In S Afr J Surg, 28 Feb 2013
The aim of this study was to determine the prevalence of hMLH1- and hMSH2-deficient colorectal cancer in the Northern Cape.
Defects in the DNA mismatch repair system do not contribute to the development of childhood wilms tumors.
New
Rotterdam, Netherlands. In Pediatr Dev Pathol, Jan 2013
Nuclear staining for MLH1, MSH2, MSH6, and PMS2 proteins was present in all 100 Wilms tumor samples.
Risks of less common cancers in proven mutation carriers with lynch syndrome.
New
Impact
Leipzig, Germany. In J Clin Oncol, Jan 2013
The purpose of this retrospective cohort study was to provide risk estimates for these less common cancers in proven carriers of pathogenic mutations in the mismatch repair (MMR) genes MLH1, MSH2, and MSH6.
Promoter methylation of tumor-related genes in gastric carcinogenesis.
Review
New
Shenyang, China. In Histol Histopathol, Oct 2012
A great number of genes with promoter methylation have been observed in gastric cancer (GC), among which p16INK4A (p16), Mut L homologue 1 (MLH1), Epithelial-cadherin (E-cadherin), Runt-related transcription factor 3 (RUNX3), adenomatous polyposis coli (APC), O(6)-methylguanine-DNA methyltransferase (MGMT), Ras association domain family 1A (RASSF1A) and Death-associated protein kinase (DAPK) have been extensively studied.
Soft tissue sarcoma and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome: formulation of an hypothesis.
Review
New
Padova, Italy. In Mol Biol Rep, Oct 2012
Hereditary non-polyposis colorectal cancer (HNPCC) is a genetic disorder caused by mutation in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) which predisposes to colorectal cancer and other malignances, that not yet include sarcomas.
Epimutation and cancer: a new carcinogenic mechanism of Lynch syndrome (Review).
Review
New
Tokyo, Japan. In Int J Oncol, Sep 2012
Cancers associated with epimutation include Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC), chronic lymphocytic leukemia, breast cancer and ovarian cancer.
Comprehensive molecular characterization of human colon and rectal cancer.
New
Impact
In Nature, Aug 2012
In total, 16% of colorectal carcinomas were found to be hypermutated: three-quarters of these had the expected high microsatellite instability, usually with hypermethylation and MLH1 silencing, and one-quarter had somatic mismatch-repair gene and polymerase ε (POLE) mutations.
Genetic testing by cancer site: colon (nonpolyposis syndromes).
Review
New
Columbus, United States. In Cancer J, Jul 2012
Lynch syndrome, which is associated with mutations in 1 of 4 mismatch repair genes (MLH1, MSH2, MSH6, and PMS2), is a well-described hereditary cancer predisposition syndrome associated with a substantial risk of colon, rectum, and endometrial cancer.
Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study.
New
Impact
Heidelberg, Germany. In Lancet Oncol, Jun 2012
We systematically analysed non-tumorous mucosa from carriers of a Lynch syndrome mutation (set 1: ten patients) and control patients without Lynch syndrome (set 1: nine patients) for MMR protein expression (MLH1, MSH2, and EPCAM) with immunohistochemistry.
Homeostatic control of recombination is implemented progressively in mouse meiosis.
New
Impact
New York City, United States. In Nat Cell Biol, Apr 2012
In wild-type mouse spermatocytes, focus numbers for early recombination proteins (RAD51, DMC1) were highly variable from cell to cell, whereas foci of the crossover marker MLH1 showed little variability.
"Null pattern" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation.
GeneRIF
United States. In Am J Surg Pathol, 2011
The lack of immunostaining for any of the 4 DNA mismatch repair proteins in this extremely unusual case was, therefore, related to a germline MSH2 mutation and somatic MLH1 promoter hypermethylation
Microsatellite instability in young patients with sporadic colorectal adenomas.
GeneRIF
South Korea. In Hepatogastroenterology, 2011
MSI-high was more frequent in young (</= 40 years) patients with colorectal adenoma than in older (>40 years) patients. Hypermethylation of the hMLH1 gene appears to be an important cause of MSI-high in these patients.
Mismatch repair genes expression defects & association with clinicopathological characteristics in colorectal carcinoma.
GeneRIF
George Town, Malaysia. In Indian J Med Res, 2011
ColorectalCancers with abnormal MMR gene expression like MLH1 were associated with microsatellite instability-high (MSI-H) phenotype.
MLH1 promoter methylation, diet, and lifestyle factors in mismatch repair deficient colorectal cancer patients from EPIC-Norfolk.
GeneRIF
Cambridge, United Kingdom. In Nutr Cancer, 2010
There is no overall role for diet and lifestyle in MMR status in colorectal cancer, consistent with age-related susceptibility to MLH1 promoter methylation.
Spreading of Alu methylation to the promoter of the MLH1 gene in gastrointestinal cancer.
GeneRIF
Wuhan, China. In Plos One, 2010
MLH1 promoter methylation may spread from Alu elements that are located in intron 1 of the MLH1 gene.
