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

Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.

Clinical genetics - 1 Aug 2004

Thiffault I, Foulkes W D, Marcus V A, Farber D, Kasprzak L, MacNamara E, Wong N, Hutter P, Radice P, Bertario L, Chong G

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common inherited cancer syndromes, accounting for 3-5% of all cases of colorectal cancer. In most HNPCC families, the disease is caused by a germline mutation in MLH1 or MSH2. In some populations, founder mutations appear to explain a substantial fraction of HNPCC. We report here the identification and preliminary characterization of two...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to Founder Effect

Share to MutL Protein Homolog 1

Share to Neoplasm Proteins

Share to Quebec

Source

Identifiers

PMID: 15253764
DOI: 10.1111/j.1399-0004.2004.00274.x

Genes

MLH1
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.PMID 15253764Read ↗

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.Semantic proximity Read ↗

New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.Semantic proximity Read ↗

[Detection of a founder mutation in an Argentine family with hereditary non polyposis colorectal cancer].Semantic proximity Read ↗

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.Semantic proximity Read ↗

MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.Semantic proximity Read ↗

Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression.Semantic proximity Read ↗

Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.Semantic proximity Read ↗

Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?Semantic proximity Read ↗

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.Semantic proximity Read ↗

Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.Semantic proximity Read ↗

Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations.Semantic proximity Read ↗

Genomic PCR-SSCP analysis of the metastasis associated NM23-H1 (NME1) gene: a study on colorectal cancer.Semantic proximity Read ↗

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