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- W3007513270 abstract "In order to clarify which variants of the MMR gene could provide current healthy members in affected families a more accurate risk assessment or predictive testing.One family, which meets the criteria according to both Amsterdam I/II and Bethesda guidelines, is reported in this study. The proband and some relatives of the patient have been investigated for whole genome sequencing, microsatellite instability, immunohistochemical MMR protein staining and verified by Sanger sequencing.A heterozygous insertion of uncertain significance (c.420dup, p.Met141Tyrfs) in MSH2 gene was found in proband (III-16) and part of His relatives. The variant was associated with a lack of expression of MSH2 protein (MMR deficient) and high microsatellite instability analysis (MSI) status in tumor tissues of LS patients. In addition, we found that the variant could affect the expression of MSH2 and the response to chemotherapy drugs in vitro.We identified an insertion mutation (rs1114167810, c.420dup, p.Met141Tyrfs) in MSH2 in LS using whole genome-wide sequencing (WGS). We further confirmed that this mutation plays an important role in LS patients of this pedigree based on in vivo and vitro study." @default.
- W3007513270 created "2020-03-06" @default.
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- W3007513270 date "2020-02-01" @default.
- W3007513270 modified "2023-10-01" @default.
- W3007513270 title "<p>A Hereditable Mutation of MSH2 Gene Associated with Lynch Syndrome in a Five Generation Chinese Family</p>" @default.
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- W3007513270 doi "https://doi.org/10.2147/cmar.s222572" @default.
- W3007513270 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7051253" @default.
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- W3007513270 hasPublicationYear "2020" @default.
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