Back to search

Article

Functional Interrogation of Lynch Syndrome Associated <i>MSH2</i> Missense Variants Using CRISPR-Cas9 Gene Editing in Human Embryonic Stem Cells

2018-11-01

Abstract excerpt

Lynch syndrome (LS) is a hereditary cancer predisposition condition caused by inactivating germline mutations in one of the DNA mismatch repair (MMR) genes. Identifying a deleterious germline mutation by DNA sequencing is important for confirming an LS diagnosis. Frameshift and nonsense mutations significantly alter the protein product and likely impair MMR function. However, the implication of a missense mutation...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
3667edd7-9612-569d-bfd5-402b1e9d3ba6
DOI
10.1101/459586
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Functional Interrogation of Lynch Syndrome Associated <i>MSH2</i> Missense Variants Using CRISPR-Cas9 Gene Editing in Human Embryonic Stem CellsDOI 10.1101/459586
Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cellsSemantic proximity
A calibrated cell-based functional assay to aide classification of <i>MLH1</i> DNA mismatch repair gene variantsSemantic proximity
Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.Semantic proximity
A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variantsSemantic proximity
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.Semantic proximity
An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.Semantic proximity
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.Semantic proximity
A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?Semantic proximity
Massively parallel functional testing of <i>MSH2</i> missense variants conferring Lynch Syndrome riskSemantic proximity
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.Semantic proximity
Multidimensional mutational phenotypes of MMR deficiency in human cancer cellsSemantic proximity
Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.Semantic proximity
Select a neighboring publication to make it the new centre.