Functional interrogation of Lynch syndrome‐associatedMSH2missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells
Abstract
Lynch syndrome (LS) predisposes patients to cancer and is caused by germline mutations in the DNA mismatch repair (MMR) genes. Identifying the deleterious mutation, such as a frameshift or nonsense mutation, is important for confirming an LS diagnosis. However, discovery of a missense variant is often inconclusive. The effects of these variants of uncertain significance (VUS) on disease pathogenesis are unclear, though understanding their impact...
Paper Details
Title
Functional interrogation of Lynch syndrome‐associatedMSH2missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells
Published Date
Aug 17, 2019
Journal
Volume
40
Issue
11
Pages
2044 - 2056
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