Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. - Wikidata - wikimedia - TriplyDB

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

http://www.wikidata.org/entity/Q37360286

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MSH6 syndrome DNA mismatch repair: molecular mechanism, cancer, and ageing Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2-MSH6 complex The alternating ATPase domains of MutS control DNA mismatch repair Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening.A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity Role of the clinical pathology laboratory in the evaluation of endometrial carcinomas for Lynch syndrome Loss of the mismatch repair protein MSH6 in human glioblastomas is associated with tumor progression during temozolomide treatment.Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.Hereditary colon cancer: lynch syndrome Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.Genetic predisposition to colorectal cancer: where we stand and future perspectives Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.Msh6 protects mature B cells from lymphoma by preserving genomic stability.Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory.Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.Anticipation in lynch syndrome: where we are where we go Identification of cancer patients with Lynch syndrome: clinically significant discordances and problems in tissue-based mismatch repair testing.Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain Mutually exclusive promoter hypermethylation patterns of hMLH1 and O6-methylguanine DNA methyltransferase in colorectal cancer.Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D)Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.Molecular testing for microsatellite instability and its value in tumor characterization.Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps.Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.Recently identified colon cancer predispositions: MYH and MSH6 mutations.Immunohistochemistry and microsatellite instability analysis in molecular subtyping of colorectal carcinoma based on mismatch repair competency.MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts MSH6 missense mutations are often associated with no or low cancer susceptibility Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing

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Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

http://www.wikidata.org/entity/Q37360286

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bilimsel makale

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scientific article published on January 2002

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Molecular and clinical charact ...... arriers of a germline variant.

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Molecular and clinical charact ...... arriers of a germline variant.

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Molecular and clinical charact ...... arriers of a germline variant.

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Molecular and clinical charact ...... arriers of a germline variant.

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Arend Karrenbeld

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Ate G J van der Zee

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Charles H C M Buys

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Elisabeth G E de Vries

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Harry Hollema

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Jan H Kleibeuker

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Jannet M Hordijk-Hos

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Maran J W Berends

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Rob G J Mensink

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Robert M W Hofstra

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P2860

Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair

hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

Familial endometrial cancer in female carriers of MSH6 germline mutations

Germ-line msh6 mutations in colorectal cancer families

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells

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10.1086/337944

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