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Article

Comprehensive functional assessment of MLH1 variants of unknown significance.

Human mutation - 1 Nov 2012

Borràs Ester, Pineda Marta, Brieger Angela, Hinrichsen Inga, Gómez Carolina, Navarro Matilde, Balmaña Judit, Ramón y Cajal Teresa, Torres Asunción, Brunet Joan, Blanco Ignacio, Plotz Guido, Lázaro Conxi, Capellá Gabriel

Abstract excerpt

Lynch syndrome is associated with germline mutations in DNA mismatch repair (MMR) genes. Up to 30% of DNA changes found are variants of unknown significance (VUS). Our aim was to assess the pathogenicity of eight MLH1 VUS identified in patients suspected of Lynch syndrome. All of them are novel or not previously characterized. For their classification, we followed a strategy that integrates family history, tumor...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to MutL Protein Homolog 1

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Source

Identifiers

PMID: 22736432
DOI: 10.1002/humu.22142

Genes

MLH1
PMS2

Variants

Provenance

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