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Article

Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.

The Journal of molecular diagnostics : JMD - 1 May 2013

Pérez-Cabornero Lucia, Infante Mar, Velasco Eladio, Lastra Enrique, Miner Cristina, Durán Mercedes

Abstract excerpt

Lynch syndrome is caused by mutations in one of the mismatch-repair system (MMR) genes. A major difficulty in diagnosis and management of Lynch syndrome is the existence of unclassified genetic variants (UVs) with unknown clinical significance, especially mutations with new descriptions and missense-type nucleotide substitutions. We evaluated the pathogenicity of 20 such mutations (6 in MLH1, 4 in MSH2, and 7 in...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23523604
DOI: 10.1016/j.jmoldx.2013.02.003

Genes

MLH1
MSH2
MSH6

Provenance

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