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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 02 Oct 2014.

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
Immunohistochemical expression pattern of MMR protein can specifically identify patients with colorectal cancer microsatellite instability.
New
Nadia et al., Tunis, Tunisia. In Tumour Biol, Jul 2014
It involves inactivation of deoxyribonucleic acid mismatch repair (MMR) genes MLH1, MSH2, PMS2, and MSH6.
A randomised, phase II trial of the DNA-hypomethylating agent 5-aza-2'-deoxycytidine (decitabine) in combination with carboplatin vs carboplatin alone in patients with recurrent, partially platinum-sensitive ovarian cancer.
New
Scottish Gynaecological Trials Group et al., Glasgow, United Kingdom. In Br J Cancer, May 2014
The primary objective was response rate in patients with methylated hMLH1 tumour DNA in plasma.
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.
[Effects of gossypol acetic acid on the proliferation and methylation level of the human MutL homologue 1 gene in human tongue carcinoma cell line Tca8113].
New
Chen et al., In Hua Xi Kou Qiang Yi Xue Za Zhi, Feb 2014
OBJECTIVE: This paper aims to study the effects of gossypol acetic acid (GAA) on proliferation and methylation level of human MutL homologue 1 (hMLH1) gene in human tongue cancer cell line Tca8113.
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.
[Diagnosis and management of hereditary colorectal cancer according to the JSCCR Guidelines 2012 for the Clinical Practice of Hereditary Colorectal Cancer].
Review
New
Sugihara et al., Tokyo, Japan. In Nihon Rinsho, Jan 2014
The genetic testing for mismatch repair gene (s) (MLH1, MSH2, MSH6, and PMS2) is performed using a microsatellite instability test or immunohistochemistry for the 4 kinds of mismatch repair proteins in colorectal cancer tissue from patients who meet the Amsterdam criteria or the revised Bethesda guidelines.
[The systems of molecular genetic markers under cancer of stomach].
New
Khorobrykh et al., In Klin Lab Diagn, Nov 2013
The study was organized to investigate the anomalous methylation of genes NA?1, RASSF1A, MLH1, N33, DAPK, the expression of genes hTERT.
Contributions of molecular analysis to the diagnosis and treatment of gastrointestinal neoplasms.
Review
New
Bellizzi, Iowa City, United States. In Semin Diagn Pathol, Nov 2013
The first section describes clinical applications of 11 immunohistochemical stains (p53, HER2, KIT, SDHB, SMAD4, beta-catenin, L-FABP, MLH1, PMS2, MSH2, and MSH6), the results of which directly reflect underlying genetic or epigenetic events.
Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention.
Review
New
Daniels et al., Houston, United States. In Fam Cancer, Jun 2013
Lifetime risk of endometrial cancer in women with MLH1 or MSH2 mutations is approximately 40 %, with a median age of 49.
Protein expression, mRNA expression and gene amplification of DNA methyltransferase 1 in endometrial tumor tissues.
New
Suzuki et al., Toyama, Japan. In Mol Clin Oncol, May 2013
Moreover, a correlation with the expression of hMLH1 and E-cadherin that was inactivated in a number of endometrial cancers was observed.
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.
New
Impact
Eng et al., Cleveland, United States. In J Clin Oncol, May 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.
Risks of less common cancers in proven mutation carriers with lynch syndrome.
Impact
Vasen et al., Leipzig, Germany. In J Clin Oncol, 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.
The unpluggable in pursuit of the undruggable: tackling the dark matter of the cancer therapeutics universe.
Review
Epstein, Sydney, Australia. In Front Oncol, 2012
A weakness of oncogene-blocking approaches is that they do not address the problem of cancer progression as selected by the recessive phenotypes of genetic instability and apoptotic resistance which in turn arise from loss-of-function - i.e., undruggable - defects of caretaker (e.g., BRCA, MLH1) or gatekeeper (e.g., TP53, PTEN) suppressor genes.
Hereditary genes and SNPs associated with breast cancer.
Review
Nasiri et al., Mashhad, Iran. In Asian Pac J Cancer Prev, 2012
The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1.
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
Comprehensive molecular characterization of human colon and rectal cancer.
Impact
Cancer Genome Atlas Network, In Nature, 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.
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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