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

Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.

Journal of medical genetics - 1 Aug 2003

Plaschke J, Rüschoff J, Schackert H K

Abstract excerpt

BACKGROUND: Germline mutations in mismatch repair genes, mainly in hMLH1, hMSH2, and hMSH6, predispose to the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. A substantial fraction of these mutations exists in genomic rearrangements of hMSH2 and hMLH1. In contrast, genomic rearrangem...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Breakage
Share to Chromosome Deletion
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Genome, Human

Share to Germ-Line Mutation

Share to Microsatellite Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 12920072
DOI: 10.1136/jmg.40.8.597
PMCID: PMC1735570

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12920072-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.PMID 12920072Read ↗

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.Semantic proximity Read ↗

hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.Semantic proximity Read ↗

hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. Online.Semantic proximity Read ↗

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled.Semantic proximity Read ↗

Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?Semantic proximity Read ↗

Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.Semantic proximity Read ↗

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.Semantic proximity Read ↗

Molecular genetics of hereditary non-polyposis colorectal cancer (HNPCC).Semantic proximity Read ↗

Genes involved in hereditary nonpolyposis colorectal carcinoma.Semantic proximity Read ↗

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.Semantic proximity Read ↗

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Semantic proximity Read ↗

Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.Semantic proximity Read ↗

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