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

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

PloS one - 1 Jan 2026

Wanitsuwan Worrawit, Kanjanapradit Kanet, Jearanai Supakool, Suphasynth Yuthasak, Supaattagorn Pongsatorn, Vijasika Sukanya, Wanram Surasak, Ngamphiw Chumpol, Nakhonsri Vorthunju, Tongsima Sissades, Satsue Palakorn, Sangkeaw Natnaree, Horpaopan Sukanya

Abstract excerpt

This study aimed to investigate Lynch Syndrome (LS)-related germline variants among Southern Thai patients with colorectal cancer (CRC) and other LS-associated cancers who met the revised Bethesda guidelines. A total of 132 probands suspected of LS underwent whole genome sequencing (WGS). Eleven germline variants including pathogenic variants (PVs), likely pathogenic variants (LPVs), and potential variants of...

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 Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Share to Thailand

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 42113783
DOI: 10.1371/journal.pone.0348867
PMCID: PMC13160317

Genes

MSH2
BCR
MLH1
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.PMID 42113783Read ↗

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

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

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

Cancer risks for<i>MSH6</i>pathogenic variant carriersSemantic proximity Read ↗

Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.Semantic proximity Read ↗

Impact of population screening for Lynch syndrome insights from the All of Us data.Semantic proximity Read ↗

Lynch Syndrome–Associated Variants and Cancer Rates in an Ancestrally Diverse BiobankSemantic proximity Read ↗

Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch SyndromeSemantic proximity Read ↗

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

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch SyndromeSemantic proximity Read ↗

Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular featuresSemantic proximity Read ↗

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

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