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Article

Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

International journal of molecular sciences - 6 May 2017

Liccardo Raffaella, De Rosa Marina, Rossi Giovanni Battista, Carlomagno Nicola, Izzo Paola, Duraturo Francesca

Abstract excerpt

Abstract: 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 MSH6 from 97 subjects negative for mutations in MLH1 and MSH2. By direct sequencing, we identified 27 MSH6 variants, of which, nine were novel. To verify the pathogenicity of these novel variants, we performed in silico and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28481244
DOI: 10.3390/ijms18050999
PMCID: PMC5454912

Genes

MSH6
MLH1
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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