Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree - Wikidata - awgldk - TriplyDB

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

http://www.wikidata.org/entity/Q33945201

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MSH6 syndrome Inherited colorectal cancer syndromes EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer Extracolonic manifestations of lynch syndrome Risks of Lynch syndrome cancers for MSH6 mutation carriers.Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management.Role of the clinical pathology laboratory in the evaluation of endometrial carcinomas for Lynch syndrome 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.Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer.Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families.Genetic detection of Chinese hereditary nonpolyposis colorectal cancer.Recently identified colon cancer predispositions: MYH and MSH6 mutations.The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.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 Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis Regulation of the human MSH6 gene by the Sp1 transcription factor and alteration of promoter activity and expression by polymorphisms.Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population.Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.Efficient and reproducible identification of mismatch repair deficient colon cancer: validation of the MMR index and comparison with other predictive models.History, genetics, and strategies for cancer prevention in Lynch syndrome.Mismatch repair deficiency testing in clinical practice.Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.MutSbeta exceeds MutSalpha in dinucleotide loop repair.Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.Estimated prevalence of hereditary cancers and the need for surveillance in a Norwegian county, Telemark.Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome.Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis.Genetic anticipation in Swedish Lynch syndrome families.Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients.

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P2860

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

http://www.wikidata.org/entity/Q33945201

description

2001 nî lūn-bûn

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2001 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2001 թվականի մայիսին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

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Journal of Medical Genetics

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Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

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Bik E

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Breuning MH

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Bröcker-Vriends AH

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Cornelisse CJ

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Fodde R

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Hendriks Y

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Hofstra R

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Lindhout D

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Meijers-Heijboer EJ

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Morreau H

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318-322

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10.1136/JMG.38.5.318

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38

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1734864

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