Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instability.Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countriesApplication of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Interplay between DNA repair and inflammation, and the link to cancerFunctional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.Anticipation in lynch syndrome: where we are where we goThe predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complexClassification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsAssessment of functional effects of unclassified genetic variants.Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.MutSbeta exceeds MutSalpha in dinucleotide loop repair.Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report.Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.Comprehensive functional assessment of MLH1 variants of unknown significance.CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.Planning the human variome project: the Spain report.
P2860
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P2860
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Functional analysis helps to c ...... in DNA mismatch repair genes.
@en
type
label
Functional analysis helps to c ...... in DNA mismatch repair genes.
@en
prefLabel
Functional analysis helps to c ...... in DNA mismatch repair genes.
@en
P2093
P2860
P50
P356
P1433
P1476
Functional analysis helps to c ...... in DNA mismatch repair genes.
@en
P2093
Anne Lützen
Jan H Kleibeuker
Jianghua Ou
Niels de Wind
Renée C Niessen
P2860
P304
P356
10.1002/HUMU.20580
P577
2007-11-01T00:00:00Z