Article

Incomplete Segregation of <em>MSH6</em> Frameshift Variants with Phenotype of Lynch Syndrome

2017-04-05

Abstract excerpt

<h4>Background: </h4> Lynch syndrome, the most frequent form of hereditary colorectal cancer and involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 subjects negative for mutations in MLH1 and MSH2. <h4>Methods:</h4> By direct sequencing, we identified 27 MSH6 variants, of which, nine were novel. To verify the pathogenicity of these novel variants we perform...

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Literature Corpus work: 2727a487-3c0c-5d78-ab63-ef5677efe11b
DOI: 10.20944/preprints201704.0027.v1

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