Ontology highlight
ABSTRACT:
SUBMITTER: Liccardo R
PROVIDER: S-EPMC5454912 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Liccardo Raffaella R De Rosa Marina M Rossi Giovanni Battista GB Carlomagno Nicola N Izzo Paola P Duraturo Francesca F
International journal of molecular sciences 20170506 5
<b>Abstract</b><b>:</b> Lynch syndrome (LS), the most frequent form of hereditary colorectal cancer, involves mutations in mismatch repair genes. The aim of this study was to identify mutations in <i>MSH6</i> from 97 subjects negative for mutations in <i>MLH1</i> and <i>MSH2</i>. By direct sequencing, we identified 27 <i>MSH6</i> variants, of which, nine were novel. To verify the pathogenicity of these novel variants, we performed in silico and segregation analyses. Three novel variants were pre ...[more]