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

[Characteristics and clinical analysis of MLH1 c.463dupC gene mutation in a Lynch syndrome family].

Zhonghua yi xue za zhi - 20 Feb 2024

Zhou D Y, Liu C, Huang J, Xu N, Ji X, Yang K X, Peng J B, Pan H, Xu W J, Zhu Z

Abstract excerpt

In this study, a case of Lynch syndrome (LS) family line with a novel mutation site in the MLH1 c.463dupC gene was reported and the clinical and pathogenic genetic features of this family were analyzed. A 40-year-old female patient with colon cancer diagnosed at the First Affiliated Hospital of Kunming Medical University on October 2, 2020 was retrospectively included. The clinical data of the family were...

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 Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to MutL Protein Homolog 1

Source

Identifiers

PMID: 38317368
DOI: 10.3760/cma.j.cn112137-20231122-01170

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

[Characteristics and clinical analysis of MLH1 c.463dupC gene mutation in a Lynch syndrome family].PMID 38317368Read ↗

The guidelines for clinical practice for carriers of germline mutations in the Lynch syndrome predisposition genes MLH1, MSH2, MSH6, PMS2 and large deletions of EPCAM (4.2024).Semantic proximity Read ↗

A Chinese family affected by lynch syndrome caused by MLH1 mutation.Semantic proximity Read ↗

Genetic Landscape of Lynch Syndrome in a High-Risk Serbian Cohort: Predominance of MLH1 Variants and Implications for Risk-Based Testing.Semantic proximity Read ↗

[A case of familial adenomatous polyposis in an adult male with Lynch-like syndrome].Semantic proximity Read ↗

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

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

Investigation of Hereditary Cancer Predisposition Genes of Patients with Colorectal Cancer: Single-centre Experience.Semantic proximity Read ↗

Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohortSemantic proximity Read ↗

[Clinical characterization and genetic analysis of two Chinese pedigrees affected with Familial adenomatous polyposis caused by variants of MUTYH gene].Semantic proximity Read ↗

WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.Semantic proximity Read ↗

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.Semantic proximity Read ↗

Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort.Semantic proximity Read ↗

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