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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
Histologic Categorization of Desmoplastic Reaction: Its Relevance to the Colorectal Cancer Microenvironment and Prognosis.
New
Hase et al., Tokorozawa, Japan. In Ann Surg Oncol, 14 Dec 2014
These results were similarly observed in cohort 2. Immature DR was associated with normal MutL homologue 1 (MLH1)/MutS homologue 2 (MSH2) immunoreactivity, a smaller number of infiltrating CD8(+) T cells and tumor-associated macrophages, a decreased microvessel count, and positive expression of tenascin-C and fibronectin.
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.
New
Walker et al., Christchurch, New Zealand. In Hum Genet, 09 Dec 2014
A total of 13 DNA repair genes were disrupted by rare deletions in 19/1,209 cases (1.6 %) compared to one gene in 1/528 controls (0.2 %; P = 0.007), and this increased DNA repair gene loss in cases persisted after excluding five individuals carrying CNVs disrupting mismatch repair genes MLH1, MSH2 and MSH6 (P = 0.03).
Prognostic Impact of Deficient DNA Mismatch Repair and Mutations in KRAS, and BRAF(V600E) in Patients with Lymph Node-Positive Colon Cancer.
New
Sinicrope et al., Paris, France. In Curr Colorectal Cancer Rep, Oct 2014
MSI is a consequence of deficient DNA mismatch repair (MMR) that is generally due to epigenetic inactivation of MLH1 in tumors that often carry mutations in oncogenic BRAF(V600E) .
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.
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Review
New
EU-Consortium Care for CMMRD (C4CMMRD) et al., Innsbruck, Austria. In J Med Genet, Jun 2014
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2.
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.
[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.
Determining eligibility for and preparation to kidney transplantation of a patient with Lynch syndrome--a case report and literature review.
Review
New
Durlik et al., Warsaw, Poland. In Ann Transplant, Dec 2013
BACKGROUND: Lynch syndrome (HNPCC, hereditary non-polyposis colorectal cancer) is a syndrome of predisposition to cancer inherited in an autosomal dominant fashion.
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).
Review
New
Win et al., Melbourne, Australia. In Appl Clin Genet, Dec 2013
However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter.
Role of endometrial cancer abnormal MMR protein in screening Lynch-syndrome families.
New
Wu et al., Nanchong, China. In Int J Clin Exp Pathol, Dec 2013
METHODS: Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital were tested for MMR (MLH1, MSH2, PMS2, and MSH6) protein expression using immunohistochemistry (IHC).
Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome.
New
Cruz-Correa et al., San Juan, United States. In Gastroenterol Res Pract, Dec 2013
In this paper we report a novel mutation in the hMLH1 gene in a Puerto Rican Hispanic family with Lynch syndrome recruited through the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR).
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 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.
Molecular profile of colorectal cancer in Indonesia: is there another pathway?
Review
Rani et al., Jakarta, Indonesia. In Gastroenterol Hepatol Bed Bench, 2011
Immunohistochemical studies showed that the proportion of patients with negative mismatch repair proteins was 43.5% for MSH2 and 83.5% for MLH1.
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