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Article

Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis.

Gene - 10 Aug 2014

Woo Hye In, Woo Young Min, Kim Sollip, Lee Seung-Tae, Ki Chang-Seok, Kim Jong-Won

Abstract excerpt

The clinical interpretation of variants in mismatch repair (MMR) genes associated with Lynch syndrome can be confusing when the functional nature of the variant is not clearly defined. We report an extreme case where a polymorphism in the MSH2 gene which had a low minor allele frequency, was misclassified as a mutation based on low evidential methods in the database and previous publications. We expanded this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24933000
DOI: 10.1016/j.gene.2014.06.027

Genes

MSH2

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