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

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28 May 2018

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28 May 2018

Robert Hofstra

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28 May 2018

author name string

Mark Drost

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28 May 2018

José B M Zonneveld

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28 May 2018

Sandrine van Hees

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28 May 2018

Niels de Wind

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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

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28 May 2018

issue

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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

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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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DNA repair defects in colon cancer

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

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

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

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

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

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

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

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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

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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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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

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28 May 2018

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28 May 2018