DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
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Alterations of copy number of methylation pattern in mismatch repair genes by methylation specific-multiplex ligation-dependent probe amplification in cases of colon cancerGermline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancerOptimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.Mutated gene-specific phenotypes of dinucleotide repeat instability in human colorectal carcinoma cell lines deficient in DNA mismatch repair.Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer.Little evidence for involvement of MLH3 in colorectal cancer predisposition.Hereditary non-polyposis colorectal cancer syndrome: combined risk of gastrointestinal and gynaecological cancer.Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Review article: genetic testing and counselling for hereditary colorectal cancer.Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.Ultraviolet radiation and skin cancer: molecular mechanisms.Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers.Update on Lynch syndrome genomics.Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.Epigenetic mechanisms in the pathogenesis of Lynch syndrome.hMLH1 and hMSH2 gene mutations are present in radial growth-phase cutaneous malignant melanoma cell lines and can be induced further by ultraviolet-B irradiation.RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1.The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24.Genetic testing: the problems and the promise.Estimated prevalence of hereditary cancers and the need for surveillance in a Norwegian county, Telemark.Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.Survival of patients with hereditary colorectal cancer: comparison of HNPCC and colorectal cancer in FAP patients with sporadic colorectal cancer.Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.BAT-26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico-pathological features and mutations in mismatch repair genes.HNPCC associated with germline mutation in the TGF-beta type II receptor gene.Prevalence of germline mutations ofMLH1 andMSH2 in hereditary nonpolyposis colorectal cancer families from Spain
P2860
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P2860
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
description
article
@en
im Juni 1996 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 1996
@uk
name
DNA mismatch repair gene mutat ...... on-polyposis colorectal cancer
@en
DNA mismatch repair gene mutat ...... on-polyposis colorectal cancer
@nl
type
label
DNA mismatch repair gene mutat ...... on-polyposis colorectal cancer
@en
DNA mismatch repair gene mutat ...... on-polyposis colorectal cancer
@nl
prefLabel
DNA mismatch repair gene mutat ...... on-polyposis colorectal cancer
@en
DNA mismatch repair gene mutat ...... on-polyposis colorectal cancer
@nl
P2093
P356
P1476
DNA mismatch repair gene mutat ...... on-polyposis colorectal cancer
@en
P2093
A L Moisio
A de la Chapelle
H J Järvinen
J P Mecklin
M Nyström-Lahti
P Peltomäki
P304
P356
10.1093/HMG/5.6.763
P577
1996-06-01T00:00:00Z