(Q54338096)

28 May 2018

title

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. (English)

1 reference

28 May 2018

author

Lene Juel Rasmussen

4

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28 May 2018

Robert Hofstra

5

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28 May 2018

author name string

Mark Drost

1

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28 May 2018

José B M Zonneveld

2

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28 May 2018

Sandrine van Hees

3

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28 May 2018

Niels de Wind

6

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28 May 2018

publication date

29 December 2011

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28 May 2018

published in

Human Mutation

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28 May 2018

volume

33

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28 May 2018

issue

3

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28 May 2018

page(s)

488-494

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28 May 2018

MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system

cites work

1 reference

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

21 January 2018

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Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

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Assessment of functional effects of unclassified genetic variants

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Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer

21 January 2018

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A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

21 January 2018

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Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

21 January 2018

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Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families

21 January 2018

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Strand-specific mismatch correction in nuclear extracts of human and Drosophila melanogaster cell lines

21 January 2018

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DNA mismatch repair: molecular mechanism, cancer, and ageing

21 January 2018

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DNA repair defects in colon cancer

21 January 2018

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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants

21 January 2018

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Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

21 January 2018

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Functional analysis of HNPCC-related missense mutations in MSH2.

21 January 2018

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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions

21 January 2018

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Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo

21 January 2018

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MUTYH and the mismatch repair system: partners in crime?

21 January 2018

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Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

21 January 2018

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Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

21 January 2018

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Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

21 January 2018

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21 January 2018

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21 January 2018

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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

21 January 2018

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Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations

21 January 2018

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High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.

21 January 2018

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Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility

21 January 2018

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A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

21 January 2018

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Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

21 January 2018

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Ten Years After Mutation Testing for Lynch Syndrome: Cancer Incidence and Outcome in Mutation-Positive and Mutation-Negative Family Members

21 January 2018

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Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

21 January 2018

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The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

21 January 2018

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Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome

21 January 2018

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7 January 2021

Construction of MMR plasmid substrates and analysis of MMR error correction and excision

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7 January 2021

Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells

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7 January 2021

A new variant database for mismatch repair genes associated with Lynch syndrome

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22000

1 reference

28 May 2018

1 reference

28 May 2018