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

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

World journal of gastroenterology - 7 Oct 2005

Sánchez de Abajo Ana, de la Hoya Miguel, Tosar Alicia, Godino Javier, Fernández Juan-Manuel, Asenjo Jose-Lopez, Villamil Beatriz-Perez, Segura Pedro-Perez, Diaz-Rubio Eduardo, Caldes Trinidad

Abstract excerpt

AIM: To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2. METHODS: We used PCR-based DGGE assay and direct sequencing to screen for hMSH6 gene in 91 HNPCC families. RESULTS: we have identified 10 families with germ-line mutations in the DNA sequence. These mutations included two intronic variation, three missense mutation, one...

Read the complete abstract on PubMed

Topics

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

Share to Base Pair Mismatch
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to DNA Mutational Analysis

Share to DNA Repair

Share to Genetic Testing

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 16270383
DOI: 10.3748/wjg.v11.i37.5770
PMCID: PMC4479674

Genes

MSH6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.PMID 16270383Read ↗

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

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

Mutational analysis of the hMSH6 gene in familial and early-onset colorectal and endometrial cancer in Israeli patients.Semantic proximity Read ↗

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

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancerSemantic proximity Read ↗

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

Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.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 ↗

Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patientsSemantic proximity Read ↗

MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.Semantic proximity Read ↗

Mutation spectrum in HNPCC in the Israeli population.Semantic proximity Read ↗

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.Semantic proximity Read ↗

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