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

Lynch syndrome, molecular mechanisms and variant classification.

British journal of cancer - 1 Mar 2023

Abildgaard Amanda B, Nielsen Sofie V, Bernstein Inge, Stein Amelie, Lindorff-Larsen Kresten, Hartmann-Petersen Rasmus

Abstract excerpt

Patients with the heritable cancer disease, Lynch syndrome, carry germline variants in the MLH1, MSH2, MSH6 and PMS2 genes, encoding the central components of the DNA mismatch repair system. Loss-of-function variants disrupt the DNA mismatch repair system and give rise to a detrimental increase in the cellular mutational burden and cancer development. The treatment prospects for Lynch syndrome rely heavily on...

Read the complete abstract on PubMed

Topics

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

Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mismatch Repair

Share to Genetic Predisposition to Disease

Share to Germ-Line Mutation

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 36434153
DOI: 10.1038/s41416-022-02059-z
PMCID: PMC9978028

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lynch syndrome, molecular mechanisms and variant classification.PMID 36434153Read ↗

Classification of MSH6 Variants of Uncertain Significance Using Functional AssaysSemantic proximity Read ↗

Integrated analysis of unclassified variants in mismatch repair genes.Semantic proximity Read ↗

Saturation-scale functional evidence supports clinical variant interpretation in Lynch SyndromeSemantic proximity Read ↗

Update on Lynch syndrome genomics.Semantic proximity Read ↗

New Insights into Lynch Syndrome: A Narrative Review.Semantic proximity Read ↗

Accurate classification of <i>MLH1/MSH2</i> missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)Semantic proximity Read ↗

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.Semantic proximity Read ↗

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

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.Semantic proximity Read ↗

Identification of Lynch Syndrome.Semantic proximity Read ↗

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Semantic proximity Read ↗

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

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