Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

doi:10.1186/1471-2350-12-12

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Article

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

BMC medical genetics - 19 Jan 2011

Castillejo Adela, Guarinos Carla, Martinez-Canto Ana, Barbera Victor-Manuel, Egoavil Cecilia, Castillejo Maria-Isabel, Perez-Carbonell Lucia, Sanchez-Heras Ana-Beatriz, Segura Angel, Ochoa Enrique, Lazaro Rafael, Ruiz-Ponte Clara, Bujanda Luis, Andreu Montserrat, Castells Antoni, Carracedo Angel, Llor Xavier, Clofent Juan, Alenda Cristina, Paya Artemio, Jover Rodrigo, Soto Jose-Luis

Abstract excerpt

BACKGROUND: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this...

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Identifiers

PMID: 21247423
DOI: 10.1186/1471-2350-12-12
PMCID: PMC3034663

Genes

MLH1
MSH6

Variants

Provenance

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Related research

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Research trail→

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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.PMID 21247423Read ↗

The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.Semantic proximity Read ↗

Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree.Semantic proximity Read ↗

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.Semantic proximity Read ↗

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.Semantic proximity Read ↗

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

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndromeSemantic proximity Read ↗

Evaluation of MLH1 variants of unclear significance.Semantic proximity Read ↗

A novel germline frameshift mutation in the MLH1 gene in a patient with Lynch syndrome.Semantic proximity Read ↗

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancerSemantic proximity Read ↗

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Comprehensive functional assessment of MLH1 variants of unknown significance.Semantic proximity Read ↗

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