Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.

The Journal of molecular diagnostics : JMD - 1 Jan 2000

Medeiros Fabiola, Lindor Noralane M, Couch Fergus J, Highsmith W Edward

Abstract excerpt

Missense variants discovered during sequencing of cancer susceptibility genes can be problematic for clinical interpretation. MLH1 K618A, which results from a 2-bp alteration (AAG→GCG) leading to a substitution of lysine to alanine in codon 618, has variously been interpreted as a pathogenic mutation, a variant of unknown significance, and a benign polymorphism. We evaluated the role of MLH1 K618A in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Mismatch Repair

Share to Germ-Line Mutation

Share to Microsatellite Instability

Share to Mutation, Missense

Share to MutL Protein Homolog 1

Source

Open in PubMed Open full text

Identifiers

PMID: 22426235
DOI: 10.1016/j.jmoldx.2012.01.006
PMCID: PMC4432490

Genes

MLH1
GCG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.PMID 22426235Read ↗

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

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.Semantic proximity Read ↗

A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer.Semantic proximity Read ↗

Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.Semantic proximity Read ↗

An American founder mutation in MLH1.Semantic proximity Read ↗

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

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.Semantic proximity Read ↗

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

Expression Defect Size among Unclassified MLH1 Variants Determines Pathogenicity in Lynch Syndrome DiagnosisSemantic proximity Read ↗

MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.