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

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

Carcinogenesis - 1 Feb 2015

Hinrichsen Inga, Schäfer Dieter, Langer Deborah, Köger Nicole, Wittmann Margarethe, Aretz Stefan, Steinke Verena, Holzapfel Stefanie, Trojan Jörg, König Rainer, Zeuzem Stefan, Brieger Angela, Plotz Guido

Abstract excerpt

Lynch syndrome is caused by inactivating mutations in the MLH1 gene, but genetic variants of unclear significance frequently preclude diagnosis. Functional testing can reveal variant-conferred defects in gene or protein function. Based on functional defect frequencies and clinical applicability of test systems, we developed a functional testing strategy aimed at efficiently detecting pathogenic defects in coding...

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 Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Mismatch Repair

Share to DNA Repair Enzymes

Share to Lymphocytes

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Source

Identifiers

PMID: 25477341
DOI: 10.1093/carcin/bgu239

Genes

MLH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.PMID 25477341Read ↗

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

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

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

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

A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variantsSemantic proximity Read ↗

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

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.Semantic proximity Read ↗

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant InterpretationSemantic proximity Read ↗

A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?Semantic proximity Read ↗

Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.Semantic proximity Read ↗

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.Semantic proximity Read ↗

A calibrated cell-based functional assay to aide classification of <i>MLH1</i> DNA mismatch repair gene variantsSemantic proximity Read ↗

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