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

A hMLH1 genomic mutation and associated novel mRNA defects in a hereditary non-polyposis colorectal cancer family.

Mutation research - 19 Jun 2002

Tanko Q, Franklin B, Lynch H, Knezetic J

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC), or Lynch syndrome I, is responsible for as high as 10% of all colorectal cancers (CRCs) newly diagnosed in any given year. This disorder has an autosomal dominant inheritance pattern and is almost fully penetrant (>85%). It occurs when there is a mutation in any one of six mismatch repair genes: hMLH1, hMSH2, hPMS1, hPMS2, hMSH3 and hMSH6. Mutations in these...

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 Delete account & data About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to MutL Protein Homolog 1

Share to Neoplasm Proteins

Share to Nuclear Proteins

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA, Messenger

Source

Identifiers

PMID: 12052501
DOI: 10.1016/s0027-5107(02)00031-3

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A hMLH1 genomic mutation and associated novel mRNA defects in a hereditary non-polyposis colorectal cancer family.PMID 12052501Read ↗

Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)Semantic proximity Read ↗

Mismatch Repair and the Hereditary Non-polyposis Colorectal Cancer Syndrome (HNPCC)Semantic proximity Read ↗

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

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.Semantic proximity Read ↗

Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.Semantic proximity Read ↗

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.Semantic proximity Read ↗

Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.Semantic proximity Read ↗

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.Semantic proximity Read ↗

Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.Semantic proximity Read ↗

Novel hMLH1 and hMSH2 Germline Mutations in African Americans With Colorectal CancerSemantic proximity Read ↗

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.Semantic proximity Read ↗

An in-frame deletion mutation in MLH1 drives Lynch syndrome-associated colorectal cancerSemantic proximity Read ↗

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