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MutS Homolog 2 Protein (0):
Recent article
MutS Homolog 2 Protein
Abstract
Providing accurate estimates of cancer risks is a major challenge in the clinical management of Lynch syndrome.
To estimate the age-specific cumulative risks of developing various tumors using a large series of families with mutations of the MLH1, MSH2, and MSH6 genes...
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PMID: 21642682
PDF is available here.
PDF is available here.
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DNA Repair (10)5 2011
Abstract
We demonstrate that 2-5 base pair deletion mutagenesis also strongly increases in rnh201Δ strains encoding wild type DNA polymerases. As in the pol2-M644G strains, the deletions occur at repetitive sequences and are orientation-dependent, suggesting that mismatches involving misaligned strands aris...
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PMID: 21414850
PDF is available here.
PDF is available here.
Abstract
We demonstrate that deficiency of both MSH2 and the Sμ region completely abolishes CSR and that the abrogation occurs at the genomic level. This finding further supports the crucial role of MSH2 outside the tandem repeats. It also indicates that during CSR, MSH2 has access to activation-induced cyt...
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PMID: 20812239
PDF is available here.
PDF is available here.
Abstract
Colorectal, endometrial and upper urinary tract tumours are characteristic for Lynch syndrome (hereditary non-polyposis colon carcinoma, HNPCC). The aim of the present study was to establish whether carriers of mutations in mismatch repair genes MLH1, MSH2 or MSH6 are at increased ri...
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PMID: 20591884
PDF is available here.
PDF is available here.
Abstract
There were 136 (24.2%) and 10 (1.8%) cases that fulfilled the Revised Bethesda and Amsterdam II criteria (ACII), respectively. MSI-H was detected in 41 (7.3%), of which 32 showed abnormalities for > or = 1 MMR protein by IHC; low-frequency MSI (MSI-L) or microsatellite stable showed abnormal MSH2 st...
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PMID: 20045164
PDF is available here.
PDF is available here.
Abstract
Good and bad prognosis for disease-free survival of patients based on reduced and elevated combined MMR phenotypic expression of the 2 histomorphologically distinct GADCs, could be explained by disease-associated emergence of genomic MMR alterations in the tumor. The impact of synchronous GISTs with...
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PMID: 20090515
PDF is available here.
PDF is available here.
Abstract
Ultrasonography had high sensitivity and an excellent negative likelihood ratio in this study. Further studies are needed, and ultrasonography should be compared with clinical follow-up, diagnostic hysteroscopy, or endometrial biopsy alone....
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PMID: 20686377
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations....
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PMID: 19404774
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations....
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PMID: 19404774
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations....
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PMID: 19404774
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations....
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PMID: 19404774
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations....
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PMID: 19404774
PDF is available here.
PDF is available here.
Abstract
Survival outcomes for all treatments were similar for both cell lines, suggesting that hMSH2 does not significantly influence thymidine deprivation toxicity or radiosensitization. The chain-terminating thymidine analogue AZT increased the toxicity of FUdR and increased DNA fragmentation. The combina...
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PMID: 20159365
PDF is available here.
PDF is available here.
Obstetrics & Gynecology (115)2 Pt 2 2010
Primary peritoneal cancer after bilateral salpingo-oophorectomy in two patients with Lynch syndrome.
Abstract
We describe two cases of primary peritoneal cancer after BSO in women with Lynch syndrome or HNPCC. CASES: The first patient was a 44-year-old woman who underwent hysterectomy with BSO for benign disease. She presented 12 years later with a pelvic mass and was diagnosed with a high-grade serous prim...
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PMID: 20093870
PDF is available here.
PDF is available here.
Abstract
We examined the interactions between Saccharomyces cerevisiae Msh2-Msh6, a eukaryotic MutS homolog, and DNA in real time. The reaction kinetics reveal that Msh2-Msh6 binds a variety of sites at similarly fast rates (k (ON) approximately 10(7) M(-1) s(-1)), and its selectivity manifests in differenti...
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PMID: 20080735
PDF is available here.
PDF is available here.
Abstract
We report application of stopped-flow kinetics to probe the mechanism of action of Msh2-Msh6, a eukaryotic DNA repair protein that recognizes base-pair mismatches and insertion/deletion loops in DNA and signals mismatch repair (MMR)(3-5). In doing so, Msh2-Msh6 increases the accuracy of DNA replicat...
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PMID: 20357752
PDF is available here.
PDF is available here.
Voprosy onkologii (56)2 2010
Abstract
We showed earlier that every tenth metachronous contralateral tumor of bilateral breast cancer (biBC) followed the MSI pattern of development. That was attributed to down-regulation of expression of DNA mismatch repair (MMR) genes. Immunological status of MLH1, MSH2, MSH6 and PMS2 proteins was evalu...
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PMID: 20552889
PDF is available here.
PDF is available here.
BMC Genetics (11)1 2010
Abstract
For recent founder mutations where marker mutations are unlikely to have occurred, both DMLE and the Goldgar method can give good results. Caution is necessary for older mutations, especially if the effective population size may have remained small for a long period of time....
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PMID: 20470408
PDF is available here.
PDF is available here.
Abstract
We describe a novel complex germline mutation c.[1601_1661+92dup; 1591_1611del] of the mismatch repair gene, MSH2. This mutation, which segregates with the disease phenotype, was discovered in a Lynch syndrome kindred that also shows a history of the Muir-Torre syndrome. Interestingly, several tumor...
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PMID: 19911012
PDF is available here.
PDF is available here.
Cancer Biomarkers (6)1 2010
Abstract
all the 44 cases test cases were in agreement with previous classification except for three cases: one case MSI-H-Bethesda unstable only for dinucleotides markers shifted to MSI-L category and two cases MSI-L-Bethesda unstable for mononucleotide markers shifted to MSI-H category. Immunohistochemistr...
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PMID: 20164541
PDF is available here.
PDF is available here.
Abstract
We address these molecular analyses, the central role for the pathologist in the selection of patients for germline diagnostics of LS, as well as the molecular basis of LS....
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PMID: 19929944
PDF is available here.
PDF is available here.
Cancer Biomarkers (6)1 2010
Abstract
all the 44 cases test cases were in agreement with previous classification except for three cases: one case MSI-H-Bethesda unstable only for dinucleotides markers shifted to MSI-L category and two cases MSI-L-Bethesda unstable for mononucleotide markers shifted to MSI-H category. Immunohistochemistr...
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PMID: 20164541
PDF is available here.
PDF is available here.
Cancer Biomarkers (6)1 2010
Abstract
all the 44 cases test cases were in agreement with previous classification except for three cases: one case MSI-H-Bethesda unstable only for dinucleotides markers shifted to MSI-L category and two cases MSI-L-Bethesda unstable for mononucleotide markers shifted to MSI-H category. Immunohistochemistr...
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PMID: 20164541
PDF is available here.
PDF is available here.
Cancer Biomarkers (6)1 2010
Abstract
all the 44 cases test cases were in agreement with previous classification except for three cases: one case MSI-H-Bethesda unstable only for dinucleotides markers shifted to MSI-L category and two cases MSI-L-Bethesda unstable for mononucleotide markers shifted to MSI-H category. Immunohistochemistr...
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PMID: 20164541
PDF is available here.
PDF is available here.
Cancer Biomarkers (6)1 2010
Abstract
all the 44 cases test cases were in agreement with previous classification except for three cases: one case MSI-H-Bethesda unstable only for dinucleotides markers shifted to MSI-L category and two cases MSI-L-Bethesda unstable for mononucleotide markers shifted to MSI-H category. Immunohistochemistr...
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PMID: 20164541
PDF is available here.
PDF is available here.
Abstract
We report this rare case of eight metachronous gastrointestinal cancers thought to be HNPCC....
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PMID: 20118596
PDF is available here.
PDF is available here.
Abstract
We have used DGGE to screen hMLH1 and hMSH2 mutations and have shown high detection rate....
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PMID: 20721744
PDF is available here.
PDF is available here.
Genetics in Medicine (11)11 2009
Abstract
Routine immunohistochemical of the mismatch repair proteins on all newly diagnosed patients with colorectal cancer can be implemented clinically, however, patient uptake of follow-up genetic consultation is lower than expected....
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PMID: 19752738
PDF is available here.
PDF is available here.
Biochemistry (Washington) (48)40 2009
Abstract
We measured Cd(2+) binding to Msh2-Msh6, directly and by monitoring changes in protein structure and enzymatic activity. Global fitting of the data to a multiligand binding model revealed that binding of about 100 Cd(2+) ions per Msh2-Msh6 results in its inactivation. This finding indicates that the...
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PMID: 19320425
PDF is available here.
PDF is available here.
Neuro-Oncology (11)4 2009
Abstract
We show development of glioblastoma multiforme in a patient with Muir-Torre syndrome. Immunohistochemical analysis of the brain tumor and colon cancer revealed loss of the DNA mismatch repair gene detected by the genetic test, suggesting a pathogenic link....
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PMID: 19028998
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (284)31 2009
Abstract
We demonstrate here that MutSbeta displays identical biochemical and biophysical activities (including ATP-provoked conformational change, ATPase, ATP binding, and ADP binding) when interacting with a (CAG)(n) hairpin and a mismatch. More importantly, our in vitro functional hairpin repair assays re...
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PMID: 19525234
PDF is available here.
PDF is available here.
Zhonghua Yixue Zazhi (89)20 2009
Abstract
The COX-2 high-expression rates were 53.6% (15/28) and 42.9% (6/14) in HNPCC adenomas and carcinomas, and were 62.5% (20/32) and 91.7% (22/24) in sporadic adenomas and carcinomas. COX-2 expression was lower in HNPCC carcinomas than that of sporadic carcinomas (P < 0.05). MMR deficiency rate and posi...
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PMID: 19671325
PDF is available here.
PDF is available here.
Abstract
We analyzed 120 ampullary adenomas (31 pure adenomas and 89 carcinoma-associated adenomas) and 170 pure adenocarcinomas for MSI, immunohistochemical expression of MMR proteins and specific histopathologic features. The most common histologic subtype was intestinal (46.5%), followed by pancreatobilia...
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PMID: 19252434
PDF is available here.
PDF is available here.
Audio, Transactions of the IRE Professional Group on (Chapter 10) 2009
Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary....
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PMID: 19360696
PDF is available here.
PDF is available here.
Abstract
During the investigation 10 pathogenic mutations and several polymorphisms were found. Seven mutations were detected in families fulfilling the Amsterdam Criteria, while the remaining three fulfilled the Bethesda Criteria. In the second phase of the study -- which better reflects the real population...
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PMID: 19386570
PDF is available here.
PDF is available here.
Molecular Microbiology (72)2 2009
Abstract
We have discovered that the disruption of TgMSH-1, an MSH in the pathogenic parasite, Toxoplasma gondii, confers drug resistance. Through a genetic selection for T. gondii mutants resistant to the antiparasitic drug monensin, we have isolated a strain that is resistant not only to monensin but also...
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PMID: 19291232
PDF is available here.
PDF is available here.
Abstract
Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is a precancerous lesion with a well-described progression to carcinoma. This case report describes a 61-year-old woman with a history significant for multiple cancers and a confirmed germline mutation of MSH2, a mismatch repair gene res...
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PMID: 18987546
PDF is available here.
PDF is available here.
Bosnian journal of basic medical sciences / Udruzenje basicnih mediciniskih znanosti = Association of Basic Medical Sciences (9)1 2009
Abstract
We have analysed the loss of heterozygosity of tumour suppressor genes which could have the diagnostic value in detection of HPNCC patients....
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PMID: 19284389
PDF is available here.
PDF is available here.
Abstract
We identified cancer-specific trans-regulatory proteins that interact with the hTERT promoter, using the promoter magnetic precipitation assay coupled with mass spectrometry. The identified proteins include MutS homolog 2 (MSH2), heterogeneous nuclear ribonucleoprotein (hnRNP) D, hnRNP K and grainyh...
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PMID: 19015635
PDF is available here.
PDF is available here.
Abstract
It seems likely that CRC in young blacks develops through the accumulation of mutations, most probably via mismatch repair deficiency or promoter methylation, which in turn is linked to poor differentiation and a mucinous architecture....
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PMID: 19418671
PDF is available here.
PDF is available here.
Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA test...
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PMID: 19100506
PDF is available here.
PDF is available here.
Cancer Investigation (27)1 2009
Abstract
We report, for the first time, that the reduced expression of the hMSH2 mismatch repair protein is related to the progression of the benign epithelium to invasive squamous cell carcinoma of the vocal folds....
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PMID: 19160096
PDF is available here.
PDF is available here.
Hepato-gastroenterology (56)91-92 2009
Abstract
Our results suggest that epigenetic inactivation of hMLH1 might play a role in the carcinogenesis of MSI-H gastric carcinomas. The immunohistochemical stain for hMLH1 protein expression could be used in routine diagnostic methods for predicting MSI status....
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PMID: 19621725
PDF is available here.
PDF is available here.
Hepato-gastroenterology (56)91-92 2009
Abstract
Instability in two mononucleotide markers, BAT26 and BAT25, was most effective markers at defining MSI status. Sensitivity is only slightly impaired by using two mononucleotide markers instead of five markers....
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PMID: 19621678
PDF is available here.
PDF is available here.
BMC Molecular Biology (10)1 2009
Abstract
Single-stranded DNA oligonucleotides that were designed to repair this splice site mutation corrected the mutation in the gene and restored expression of wild-type dystrophin. This repair was validated at the DNA, RNA and protein level. We also report that the frequency of genetic repair of the mdx...
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PMID: 19236710
PDF is available here.
PDF is available here.
Genetics in Medicine (11)1 2009
Abstract
We found insufficient evidence to recommend a specific genetic testing strategy among the several examined. RATIONALE: Genetic testing to detect Lynch syndrome in individuals with newly diagnosed colorectal cancer (CRC) is proposed as a strategy to reduce CRC morbidity and mortality in their relativ...
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PMID: 19125126
PDF is available here.
PDF is available here.
Abstract
Abstract
Our results suggest that the prognosis of hereditary non-polyposis colorectal cancer-related colorectal carcinoma patients depends on the associated constitutional mismatch repair genotype....
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PMID: 20210238
PDF is available here.
PDF is available here.
Dermatology (219)2 2009
Abstract
The link between the germline mutation and the skin tumor was reinforced by immunohistochemical staining. MSH2 immunoreactivity was decreased in SKA tumoral cells when compared to normal adjacent epidermis and to 5 cases of sporadic KA used as controls. CONCLUSION: This observation indicates that a...
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PMID: 19602866
PDF is available here.
PDF is available here.
Nature Genetics (41)1 2009
Abstract
We describe 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. Due to these deletions, transcription of TACSTD1 extends into MSH2. The MSH2 promoter in cis with t...
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PMID: 19098912
PDF is available here.
PDF is available here.
Abstract
We describe several methods to prepare DNA templates for footprinting and ways to avoid many of the pitfalls associated with the use of hydroxyl radical footprinting. In addition, we describe in detail one example of the application of this technique....
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PMID: 19378159
PDF is available here.
PDF is available here.
Abstract
Five probands with MLH1 gene promoter methylation were detected in 18 Chinese HNPCC families with MSI-H phenotype but without germline mutations in MSH2, MLH1 and MSH6 genes. Two of the five probands from families H10 and H29 displayed exhaustive-methylation, fulfilling the Japanese criteria (JC) an...
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PMID: 19109866
PDF is available here.
PDF is available here.
Journal of Clinical Oncology (26)35 2008
Abstract
Among the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met t...
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PMID: 18809606
PDF is available here.
PDF is available here.
Gynecologic Oncology (111)3 2008
Abstract
We report a case of synchronous primary cancers of the endometrium and fallopian tube diagnosed at time of prophylactic surgery in an MSH2 mutation carrier. CONCLUSION: Risk-reducing gynecological surgery in Lynch syndrome must include complete removal of the fallopian tubes in addition to the ovari...
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PMID: 18805575
PDF is available here.
PDF is available here.
Abstract
Our findings demonstrate that immunohistochemical testing for internal malignancy-associated sebaceous neoplasms is a practical approach to confirm a suspected inherited MMR gene defect, and an accurate method to distinguish between sporadic and MTS-associated sebaceous lesions....
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PMID: 19069357
PDF is available here.
PDF is available here.
Abstract
In the investigated families 3 pathogen mutations, 1 large deletion and 2 cases of polymorphism were found. There is considerable difference between the families in terms of the types of malignancies and the age in which those appeared. CONCLUSION: Recognizing families with Hereditary Non-polyposis...
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PMID: 18289827
PDF is available here.
PDF is available here.
Ginekologia polska (79)12 2008
Abstract
BACKGROUND: Loss of DNA mismatch repair may result in resistance to platinum- based anticancer drugs. The hMLH1 and hMSH2 proteins play a critical role in the maintenance of genome integrity and are involved in resistance to platinum-based therapy in colorectal cancer, which is deficient in hMLH1 pr...
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PMID: 19175039
PDF is available here.
PDF is available here.
Human Mutation (29)12 2008
Abstract
We used a functional assay of exon inclusion. For each variant, mutant and wild-type exons to be tested were PCR-amplified from patient genomic DNA together with approximately 150 bp of flanking sequences and were inserted into a splicing reporter minigene. After transfection into HeLa cells, the ef...
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PMID: 18561205
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (283)46 2008
Abstract
We analyzed seven cancer-associated single amino acid alterations in hMSH6 distributed throughout the functional domains of the protein to determine their effect on the biochemical activity of the hMSH2-hMSH6 heterodimer. Five alterations affect mismatch-stimulated ATP hydrolysis activity providing...
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PMID: 18790734
PDF is available here.
PDF is available here.
Abstract
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. A patient with CRC at age 16 was found to carry the APC c.3183_3187del5 mut...
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PMID: 18629513
PDF is available here.
PDF is available here.