Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics - Wikidata - wikimedia - TriplyDB

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

http://www.wikidata.org/entity/Q57741862

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MSH6 syndrome Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics Genetic Instability Caused by Loss of MutS Homologue 3 in Human Colorectal Cancer Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.Lessons from Lynch syndrome: a tumor biology-based approach to familial colorectal cancer.Reconstitution of Saccharomyces cerevisiae DNA polymerase ε-dependent mismatch repair with purified proteins.Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity Pathways and Mechanisms that Prevent Genome Instability in Saccharomyces cerevisiae Lower gastrointestinal tract cancer predisposition syndromes MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer.A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.Application of molecular diagnostics for the detection of Lynch syndrome.EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients Clustering of Lynch syndrome malignancies with no evidence for a role of DNA mismatch repair.Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome.Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.Colorectal carcinoma: Pathologic aspects Identification of patients at risk for hereditary colorectal cancer Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer.Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden.A mutant BRAF V600E-specific immunohistochemical assay: correlation with molecular mutation status and clinical outcome in colorectal cancer.Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.A personal historical view of DNA mismatch repair with an emphasis on eukaryotic DNA mismatch repair.Lynch syndrome in women less than 50 years of age with endometrial cancer.Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome Update on Lynch syndrome genomics.The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome.Characterization of a highly conserved binding site of Mlh1 required for exonuclease I-dependent mismatch repair.Genetic and molecular changes in ovarian cancer.

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Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

http://www.wikidata.org/entity/Q57741862

description

im Februar 2007 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в лютому 2007

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name

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

@en

Lynch Syndrome

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type

label

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

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Lynch Syndrome

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prefLabel

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

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Lynch Syndrome

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P1433

Journal of the National Cancer Institute

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Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

@en

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B. Halvarsson

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J. Vandrovcova

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K. Lagerstedt Robinson

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M. Clendenning

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N. Papadopoulos

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P. Peltomaki

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R. D. Kolodner

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T. Frebourg

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T. Liu

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P2860

Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X

Mutations of the BRAF gene in human cancer

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

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291-299

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scholarly article

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10.1093/JNCI/DJK051

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4

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99

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Kenneth W Kinzler

Annika Lindblom

Bert Vogelstein

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2007-02-20T00:00:00Z

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17312306

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colorectal cancer