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Article

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.

Familial cancer - 1 Dec 2013

Farrell M P, Hughes D J, Drost M, Wallace A J, Cummins R J, Fletcher T A, Meany M A, Kay E W, de Wind N, Power D G, Andrews E J, Green A J, Gallagher D J

Abstract excerpt

Genetic testing of an Irish kindred identified an exonic nucleotide substitution c.1664T>C (p.Leu555Pro) in the MLH1 mismatch repair (MMR) gene. This previously unreported variant is classified as a "variant of uncertain significance" (VUS). Immunohistochemical (IHC) analysis and microsatellite instability (MSI) studies, genetic testing, a literature and online MMR mutation database review, in silico phenotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23712482
DOI: 10.1007/s10689-013-9652-9

Genes

MLH1
PMS2

Variants

Provenance

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