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Validated All-in-One™ qPCR Primer for MSH2(NM_000251.2) Search again
Product ID:
HQP055530
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1, MMRCS2, MSH-2, hMSH2
Gene Description:
mutS homolog 2
Target Gene Accession:
NM_000251.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. [provided by RefSeq].
Gene References into function
- hereditary and somatic mutations in sporadic endometrial adenocarcinoma
- mutational analysis in HNPCC
- Further characterization of the mutational spectrum of MSH2 gene in HNPCC families.
- hMSH2-hMSH3 did not appear to bind any of the 8-oxo-G containing DNA substrates nor was there enhanced ATPase or ADP --> ATP exchange activities.
- Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.
- interacts with MutY homolog
- A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots.
- hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA
- differential expression associated with prostate carcinoma recurrence
- Large deletions have been detected in MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC).
- Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography
- expression changes during menstrual cycle in parallel with proliferative patients; expression in endometrial carcinoma consistent with PCNA expression
- The expression rates of the hMSH2, hMLH1 and hPMS1 genes were found to differ among various types of malignant lymphoproliferative disorders of B-cell origin, with higher incidence of gene expression aberrations associated with aggressive disease.
- Interactions between p53, hMSH2-hMSH6 and HMG I(Y) on Holliday junctions and bulged bases
- Two mutations and four polymorphisms detected in Brazilian families with suspected Hereditary Nonpolyposis Colorectal Cancer
- Missense mutation in hMSH2 results in reduced hMSH2-hMSH6 dimers affecting mismatch-dependent molecular switch function in HNPCC
- A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.
- Identification of transdominant-negative genetic suppressor elements derived from hMSH2 that mediate resistance to 6-thioguanine.
- The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
- mutation analysis of K-ras and beta-catenin genes related to O-6-methylguanine-DNA methyltransferase and this protein status in human gallbladder carcinoma
- genomic deletions in both MSH2 and MLH1 genes play a considerable role in the pathogenesis of HNPCC and should be part of the routine HNPCC mutation detection protocols.
- Patients carry missense mutations in both MSH2 and MSH6.
- Early onset brain tumor and lymphoma in MSH2-deficient children
- in glioblastoma multiforme patients expression of Msh2 is not related to age
- Although very rare in the population, MSH2*1906G>C is found at an increased frequency in young Jewish patients with colorectal cancer.
- loss of MLH1 and MSH2 expression seen in approximately equal frequency in small intestine neoplasms with microsatellite instability
- Positive relationship between the expression of hMSH2 mRNA and the differentiated types of gastric cancer.
- We identified a common deletion in MSH2, accounting for approximately 10% of our cohort of clinically selected North American families with HNPCC Genealogical, molecular, and haplotype studies showed that this deletion represents a founder mutation
- Germline mutation in MSH2 exon 1, codon 61, nucleotide 181, stopping translation noted in one Uraguayan HNPCC family; and in another mutation at exon 3: at nucleotide 530, codon 117, causing frameshift and premature stop codon eight base pairs later
- Mutations of this protein show microsatellite instability in human prostatic cancer
- Data show that alterations in global DNA methylation may influence tumor progression but are not directly associated with the inactivation of the mismatch-repair proteins hMLH1 and hMSH2.
- A SNP [gIVS12-6T > C]in the MSH2 gene was found in 30 of 277 patients with lymphoma, leukemia & myelodysplasic syndromes. In lymphoma, the SNP frequency was 0.09, suggesting an association with the development of lymphomas.
- results indicated that the disruption of the mismatch repair system of Msh2 does not mainly lead to allelic loss of the FHIT/FRA3B locus as well as microsatellite instability in esophageal cancer
- Our findings indicate that reduced expression of the MMR proteins may have an important contribution in the development of a subset of TCCs and suggest a potential role for MMR expression as prognostic indicators.
- msh2 expression was identified in recurrent glioblastoma multiforme
- Germline missense mutations in the hMSH2 gene is associated with sporadic colorectal cancer
- Although mutator pathway was implicated in younger-age-onset colorectal carcinogenesis, many tumors appeared to evolve from different genetic events other than hMSH2 and hMLH1 mutations frequently identified in nonpolyposis colorectal cancer
- hMSH2-deficient tumor cell lines did not accurately repair plasmid DNA double-strand breaks by homologous recombination. MSH2-deficiency could promote mutation caused by gene conversion which may also contribute to cancer predisposition.
- Ductal pancreatic carcinomas express hMLH2 protein irrespective of their differentiation
- Four different MSH2 deletions (exons 1-2, exons 1-6, exons 1-7 and exon 8) have been found in Lynch syndrome patients.
- Germline mutations were found in 2 of 11 endometrial neoplasms without hereditary nonpolyposis colorectal cancer, but with family history.
- Data suggest direct involvement of MSH2 in processing IdUrd in DNA.
- colocalization of pathogenic missense mutations with exonic splicing enhancers sites strongly suggests that their pathogenic effects are splicing related
- Inactivation of hMSH2 of DNA mismatch repair genes has an important role to play in the mutagenesis of the tumor-suppressor genes in alveolar soft part sarcoma.
- association between the polymorphism in exon 13 of the hMSH2 gene (gIVS 12-6T-->C) and the risk of non-Hodgkin lymphoma
- Loss of hMLH1 and/or hMSH2 expression was found in nine of 15 microsatellite instability-high ovarian endometrioid carcinomas.
- A model in which MSH2 and ATR function upstream to regulate two branches of the response pathway to DNA damage caused by MNNG.
- hMLH1 and hMSH2 gene mutations are present in radial growth-phase cutaneous malignant melanoma cell lines
- 4/6 (66.67%) and 1/6 (16.67%) mutations of hMSH2 and hMLH1 were identified in typical HNPCC and atypical HNPCC, respectively.
- findings suggest that defective DNA mismatch repair, due to inactivation of DNA mismatch repair protein hMLH1 and hMSH2 protein, does not play a significant role in the pathogenesis of intraductal papillary-mucinous neoplasms of the pancreas
- Mutations of the MSH2 is associated with double primary cancers of the colorectum and the endometrium
- Significantly higher expression of hMSH2 protein in glioblastoma multiforme. Implications of overexpression of hMSH2 in glioblastoma multiforme are not clear.
- MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population
- Data suggest that in human cell lines, ubiquitin-proteasome could play an important role in the regulation of hMutSalpha (hMSH2/hMSH6) protein expression, thereby regulating mismatch repair activity.
- All hereditary nonpolyposis colorectal cancer patients displayed microsatellite instability, with the half losing hMLH2 expression.
- Novel germline hMSH2 genomic deletion and somatic hMSH2 mutations is associated with a hereditary nonpolyposis colorectal cancer family
- hMSH2/6 formed a complex with BLM-p53-RAD51 in response to the damaged DNA forks during double-stranded break repair.
- MutSalpha has two nucleotide binding sites with differential specificities for ADP and ATP and the ADP.MutSalpha.ATP ternary complex has an important role in mismatch repair
- The presence of mutations of MSH2 and MLH1 in melanoma brain metastases, which has not been found in primary melanomas, indicates the high genomic instability of melanoma brain metastases.
- hMSH2 gene mutations have been found in Chinese hereditary nonpolyposis colorectal cancer patients.
- Low predictive value of hMLH2 microsatellite and immunohistochemical analysis in Taiwanese hereditary nonpolyposis colorectal cancer
- Three of seven mutations have been found to be novel, and the germline G204X nonsense mutation in the third exon of hMSH2 has become the first MMR gene mutation found in Chinese Mongolian people.
- The first characterized nonepithelial tumors in hereditary nonpolyposis colorectal cancer seem to carry a limited panel of dna replication errors, including a frameshift at the MSH2 gene.
- 2 new mutations (c.1886A>G, c.1316_1318delCCT)were found in Korean HNPCC families.
- In HPCC patients, 2 new frameshift mutations leading to premature stop codons were found in MSH2: c.1672delT (p.S558Xfs) and c.2466_2467delTG (p.C822X); and 1 new mutation leading to splice aberrations: c.1661G>C (r.1511_1661del).
- The caqrcinogenesis of hereditary form of colon cancer with mutations in hMLH1 and hMSH2 genes involved in DNA repair is reviewed.
- Downregulation of MSH2 protein is associated with breast disease
- Loss of MSH2 gene is associated with genetic instability in testicular germ cell tumor
- The expression of MSH2, MLH1 and Rad51 genes was clearly growth regulated
- Clinicopathological data and patient survival were correlated with MSH2 staining
- MSH2 Met688Ile and Leu390Phe are polymorphisms, not mutations, in the Japanese population
- A novel germ-line mutation in hereditary nonpolyposis colorectal cancer has been identified.
- Large genomic deletions which mainly present to MSH2 account for 20% of general pathological sequence changes of MSH2 and MLH1 genes in Chinese HNPCC patients.
- hMLH1/hMSH2 protein expression is constitutively higher in certain cell types of certain tissues, including the majority of tissues that are at increased risk of cancer in hereditary non-polyposis colon cancer (HNPCC)
- BRAF mutations proved to be absent in tumors from hereditary nonpolyposis colorectal cancer syndrome (HNPCC) families with germline mutations in the MMR genes MLH1 and MSH2.
- Chinese hereditary nonpolyposis colorectal cancer showed relatively frequent germline mutation of mismatch repair (MMR) genes
- Epithelial cells of CIN lesions showed a significant increase in the expression of both hMLH1 and hMSH2 proteins compared to non-neoplastic squamous epithelium.
- Results indicate that protein kinase C (PKC) zeta modulates hMutS alpha (MSH2, MSH6)stability and protein levels, and suggest a role for PKC zeta in genome stability by regulating mismatch repair activity.
- Colorectal cancers not expressing hMLH1 or hMSH2 may have distinct features from those expressing these mismatch repair proteins. p53 expression appears to be implicated in a compensatory pathway with mismatch repair proteins.
- positive staining was found in 33.3% and 53.3% for hMLH1 and hMSH2, respectively, in dysplastic nevi, and in 54.5% and 69.1%, respectively, in cutaneous melanoma
- Defective DNA MMR is uncommon in long-term survivors of pancreatic cancer and does not account for the survival benefit in those with sporadic pancreatic cancer.
- hMSH2 PMS1 may be useful as CD4+ helper T cell antigens for immunotherapy of pancreatic cancer patients.
- There is increased expression of MSH2 in vulvar carcinoma neoplasms.
- Tumor suppressor gene, hMSH2, may play an important role as a putative coactivator in ER alpha dependent gene expression.
- decreased expression in gastric mucosa during Helicobacter pylori gastritis
- We sequenced the MLH1/MSH2 coding and promoter core regions in patients with cancers suggestive of hereditary non-polyposis colorectal cancer, and correlated deleterious mutations with clinical and tumour features.
- No correlation between microsatellite instability and hMLH1, hMSH2 or P53 protein expression in basal cell carcinma was found.
- hMLH1 is the major altered mismatch repair gene involved in nonsmoking NSCLC tumorigenesis and promoter methylation is the predominant mechanism in hMLH1 and hMSH2 deregulation
- the recombinogenic sequences in the MSH2 5' region may be involved in hereditary non-polyposis colorectal cancer
- This study investigates microsatellite instability in multiple primary colorectal cancers, and the relevance of MLH1, MSH2, and MSH6 gene expression in hereditary nonpolyposis colon cancer.
- High frequency and diverse spectrum of large genomic alterations in hMSH2 in suspected Lynch syndrome patients
- the HNPCC associated MSH2*1906G-->C founder mutation probably arose between 11 and 22 generations ago
- A germline mutation of MSH2 gene could be found in patients with hereditary nonpolyposis colorectal cancer syndrome.
- results indicate that Gly322 variant in the hMSH2 gene may increase the risk of breast cancer
- Large DNA fragment aberrations of MSH2 gene was a frequent cause of Chinese HNPCC and CRC patients with family history.
- Partial exon skipping was demonstrated for the mutations of MSH2 in hereditary nonpolyposis colorectal cancer patients.
- biochemical analysis of the MutLalpha. MutSalpha complex
- results demonstrate that the loss of expression of MLH-1 and MSH-2 might play a role in the pathogenesis and/or malignant transformation in some renal carcinomas
- Mutation in MSH2 is associated with hereditary nonpolyposis colorectal cancer syndrome
- Alu is a promoting factor for the genomic recombinations in both MLH1 and MSH2, and the local Alu density may be involved in shaping the deletion pattern.
- Microsatellite instability and modifications in the hMLH1 and hMSH2 genes are implicated in a significant proportion of the patients with head and neck cancer.
- Study found that 40% of patients who were < or = 45 years of age at the time of diagnosis of colorectal cancer have tumors which are related to the absence of expression of either hMLH1 or hMSH2 genes.
- Our study, probably for the first time, showed through immunohistochemical detection of hMSH2 and hMLH1 gene that DNA MMR system does not play a prominent role in liver fluke infection-associated cholangiocarcinogenesis.
- hMSH2 and hMLH1 may have a role in development of secondary carcinoma in the gastrointestinal tract in patients (stomach and colorectal carcinoma)
- Germline mutations of hMLH1 and hMSH2 genes are identified in about one-third hereditary nonpolyposis colorectal cancer (HNPCC) kindreds fulfilling Chinese HNPCC criteria.
- Smoking promoted colorectal cancer in a dose-dependent manner in hMSH2 in males (P < 0.05). Females with hMSH2 mutations and both sexes with the hMLH1 groups only demonstrated a smoking effect after an extensive smoking history (P < 0.05).
- The inactivation of the DNA-mismatch-repair-gene MSH2 and microsatellite instability may play a minor role in somatic colorectal cancer development.
- HMSH2 gene alterations associated with recurrence of oral squamous cell carcinoma
- Missense mutations in MSH2 are likely to affect splicing only when located in weak alternative exons. When they do so, they might modulate in a tissue-specific manner cancer onset and its phenotypic manifestations.
- The odds ratio (OR) was 8.76 for CRC and 9.15 for GC, suggesting an association between the presence of variants in exon 7 of the MSH2 gene and risk of gastrointestinal cancer in the studied population
- We conclude that the high incidence of CRC in Newfoundland may be attributable to genetic, or at least familial, factors. In the high-risk families we provide evidence for the involvement of founder mutations in the APC and MSH2 genes.
- The incidence of CRC in MSH2 mutation carriers, exposed to the same environment, is not modified by the specific mutation, although there is a suggestion that type of mutation may influence development of some extracolonic cancers.
- We report a case of Muir-Torre syndrome associated with intrahepatic cholangiocarcinoma, a location not previously described, and associated with a novel missense mutation of the MSH2 gene (c.2026T > C), predicted to disrupt the function of the gene.
- In the inherited colon cancer syndrome hereditary non-polyposis colon cancer, microsatellite instability has been attributed to mutation in loci coding for hMSH2, wich is important redulators of the DNA mismatch repair system.
- In the inherited colon cancer syndrome hereditary non-polyposis colon cancer, microsatellite instability has been attributed to mutation in loci coding for hMSH2, wich is important redulators of the DNA mismatch repair system.
- All our patients carried the same novel MSH2 germline missense mutation (R359S) in exon 7. The mutation was associated with lack of expression of MSH2 protein and high microsatellite instability in tumour tissues.
- Inactivation of MSH2 gene is associated with head and neck squamous cell carcinoma tumors and leukoplakia
- Although the frequency is much lower than that of genomic deletions, there are partial gene duplications implicated in hereditary nonpolyposis colorectal cancer.
- evidence of anticipation effects in HNPCC families carrying MSH2 deletions
- Bcl2 suppression of MMR may occur in a novel mechanism by directly regulating the heterodimeric hMSH2-hMSH6 complex, which potentially contributes to genetic instability and carcinogenesis
- Hypoxia induced coordinated repression of MLH1 and MSH2 leads to genetic instability and consequent tumor progression in cancer cells.
- Hreditary non-polyposis colorectal cancer in a Chinese family is associated with a novel mutation in the MSH2 gene.
- findings suggest that mutations of p53 and hMSH2 genes may be deeply involved in not only the progression of hepatocellular carcinoma but also the recurrence development of hepatocellular carcinoma
- There is a substantial involvement of hMSH2 but little or no involvement of hMLH1 in the repair of UVA- and methylene-blue-plus-visible-light-induced oxidative DNA damage by base excision repair.
- A novel duplication mutation of four nucleotides in exon 7 MSH2 (MSH2: c.1215_1218dupCCGA) was found in a large Chinese kindred with hereditary nonpolyposis colorectal cancer, which result in a premature stop 10 codons downstream in MSH2 in the family.
- A636P mutations are found at increased frequency in Ashkenazim with a personal or family history of colorectal or other HNPCC-associated cancers
- MSH2 is required for signaling to the autophagic pathway after exposure to thioguanine.
- Two to six percent of CRC are caused by germline mutation in the mismatch repair genes MLH1, MSH2 and MSH6.
- The expression levels of four genes (hMSH2, XRCC1, XPD, MGMT) present in peripheral blood mononuclear cells were significantly correlated with increased risk for esophageal squamous cell carcinoma.
- A need for caution in the use of radiotherapy for treatment of malignancies in individuals with functional loss of MSH2.
- Expression of hMSH2 and hMLH1 proteins was up-regulated in three cases, whereas in two cases that of hPMS2 was increased. hMSH6 expression was comparable to that of normal cells in all cases.
- Finds higher gene expression of MSH2 in responders and the trend for predicting overall survival indicates a predictive value of this marker in the treatment of advanced CRC with capecitabine
- the T/T genotype of hMSH2 gIVS12-6T>C polymorphism was a poor prognostic factor in non-small cell lung cancer
- Eighteen germline mutations (50%) were identified, 9 in MLH1 and 9 in MSH2, in Hungarian hereditary non-polyposis colorectal cancer (HNPCC) and suspected-HNPCC families.
- Hereditary nonpolyposis colorectal cancer patients from Basque Country show higher percentages of MSH2 rearrangements than previously published by other authors.
- Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.
- MSH2 modulates in human melanocytes both UV-B-induced cell cycle regulation and apoptosis, most likely via independent, uncoupled mechanisms.
- No loss of nuclear expression of either hMLH1 or hMSH2 was identified in any cases of intraductal or invasive ductal carcinoma, suggesting that hMLH1 or hMSH2 may not play an essential role in the majority of cases of the breast carcinoma.
- The researchers found four germline mutations associated with the clinical phenotype of Lynch syndrome
- Novel MSH2 mutation in a Druze family in Israel with a pedigree of HNPCC. The mutation was a c.702delA mutation in codon 234 of exon 4 that led to a premature stop in codon 245,p.
- an abnormal mismatch repair (one component of mismatch repair is MSH2 protein) may contribute to the carcinogenesis of a subset of laryngeal squamous cell carcinoma
- missense mutations leading to loss of mismatch repair defined important structure-function relationships and the molecular analysis revealed the nature of the deficiency for Msh2 variants expressed in the tumors
- tumors harboring the mutation lacked the expression of MSH2 and showed high microsatellite instability
- Extensive screening of 59 multiple-case breast cancer families did not identify any coding region mutations or larger genomic alterations in MSH2 that might implicate MSH2 as a breast cancer susceptibility gene.
- There is strong associations between the MSH2 -118T>C polymorphism and family history of CRC based on the Amsterdam criteria I (P = 0.005) and Amsterdam criteria I and II (P = 0.036)
- Protein MSH2 is involved in the regulation of normal cell cycle response after UVB-induced DNA damage.
- The lack of association between MSH2 protein expression and Microsatellite instability in endometrial cancer samples was observed
- Deletion in the MSH2 gene is associated with Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer
- These results support the evidence that hMSH2 and hMLH1 expression may increase prior to gastric cancer.
- median MSH2 expression was lower in the presence of vascular invasion in the colorectal cacner patients.
- Expression of MSH2 protein was significantly lower in patients with gastric cancer showing a high frequency of microsatellite instability.
- Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026).
- In about 90-95% of the cases, germline mutations of the hMLH1 or hMSH2 genes can be demonstrated, while only a low percentage is caused by the mutations of hMSH6, hPMS1 and hPMS2.
- The left-sided preponderance of DNA mismatch repair defective colorectal carcinomas was mostly associated with hMLH1, and with possible loss of hMSH2 expression.
- loss of function of hMLH1 and hMSH2 is not involved in sporadic RCC, either by promoter methylation or mutation in their exons. LOH showed that chromosomal instability of large fragments of DNA was the main genetic alteration detected associated with RCC
- interaction of the replication clamp with other repair protein(s) accounts for the essential role of PCNA in MutSalpha-dependent mismatch repair
- MHL1 immunoexpression in both central/superficial and invasive tumor fronts of oral squamous cell carcinoma was not correlated with histological grades of malignancy.
- Re-annotation of the 10-Mb paracentric inversion of chromosome arm 2p that inactivates MSH2 and causes hereditary nonpolyposis colorectal cancer
- Extensive genealogic studies have connected 27 of the 41 AFM of MSH2 families into seven extended pedigrees.
- The novel mutations c.243_244insA in MLH1 gene and c.1215_1218dupCCGA in MSH2 gene were the disease-causing mutations in the two HNPCC families.
- Missense MSH2 gene mutation is associated with hereditary nonpolyposis colorectal cancer
- Uncertain pathogenicity of MSH2 variants N127S and G322D in genetic predisposition for colorectal, endometrial, pancreatic and biliary tract neoplasms.
- These data indicate that MutSalpha associates with DNA non-specifically and forms an alpha-loop interaction with the DNA substrate.
- The total mutation rate of hMLH1 and hMSH2 gene in Chinese and Korean hereditary nonpolyposis colorectal cancer was similar and lower than that reported in Western countries. But the mutation characteristics were different in the two populations.
- High linkage disequilibrium in the genomic regions covering hMSH2, indicate that common genetic variants in general are not involved in the development of sporadic colorectal cancer
- A total of 22 unclassified variants in the mismatch repair genes MLH1 and MSH2 involved in hereditary nonpolyposis colorectal cancer out of 85different variant alleles examined in 82 families affected splicing.
- Results indicate that the suppression of E2F1 transcriptional activity in senescent cells lead to stable repression of MSH2, followed by a induction of MutS alpha dysfunction, which results in a reduced DNA mismatch repair capacity in senescent cells.
- In the normal tissues of hereditary non-polyposis colorectal cancer patients with MSH2 mutations, the MLH1/MSH2 transcript ratios were significantly elevated as compared to the ratios of normal mucosa in patients with MMR-proficient tumours.
- A truncating mutation in the MSH2 gene, c.258_259delTG, was carried by patients developing cancer of the colon (two patients), uterus, kidney, bladder, and/or small intestine at ages 16, 24, 43, 44, 45, and 57, respectively.
- Data demonstrate a potential role for MSH2 in the pathogenesis of nonneoplastic mesenchymal cell accumulation and intestinal remodeling in Crohn's disease stricture formation.
- hMSH2 expression is associated with smoking status
- gynecologic cancers, 88% of which (28 cases) were endometrial cancers, were diagnosed in 78.9% of the Ashkenazi families with the MSH2 A636P founder mutation and in 26.2% of the women who were at risk, with a mean age at diagnosis of 51.2 years
- Large genomic rearrangements were frequent in the MSH2 gene. Carriers and relatives have more extracolonic nonendometrial Lynch syndrome-associated cancers.
- Eight hMSH2 or hMLH1 gene sequence variations were found in 12 Chinese families with hereditary nonpolyposis colorectal cancer (HNPCC).
- SNP-based method for detecting LOH in MLH1 and MSH2 is simple to perform with instruments available in most clinical genetics laboratories
- Study reports a 2 siblings with bi-allelic germline mutations in MSH2; a deletion of the first 6 exons and a variant of the initiation codon (c.1A>G), whereas their phenotypes are more suggestive of a mono-allelic pathogenic mismatch repair gene mutation
- MSH2 missense mutations in Hereditary Non-Polyposis Colorectal Cancer are described.
- MSH2 functions in DNA repair in response to DNA interstrand crosslinks.
- examined the consequences of seven MSH2 missense mutations found in hereditary nonpolyposis colorectal cancer families by testing the MSH2 mutant proteins in functional assays
- microsatellite instability Colorectal cancer patients with low Bcl-2 and hMLH1 and hMSH2 demonstrate a significantly shorter disease-free survival.
- MMR-deficient mutations situated in the amino-terminal connector and lever domains of MSH2 affected protein stability, whereas mutations in the ATPase domain caused defects in mismatch binding or release.
- Patients from Dutch and Chinese families with MSH2-deficient tumors carrying heterozygous germline deletions of the last exons of TACSTD1, a gene directly upstream of MSH2 encoding Ep-CAM, are described.
- Three novel hereditray nonpolyposis colorectal cancer genes are reported in Korean families. MSH2 has a frameshift mutation and a premature stop codon.
- Decreased MSH2 protein is associated with invasive squamous cell carcinoma of the vocal folds.