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

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.

Gastroenterology - 1 Aug 2003

Raevaara Tiina E, Vaccaro Carlos, Abdel-Rahman Wael M, Mocetti Esteban, Bala Shashi, Lönnqvist Karin E, Kariola Reetta, Lynch Henry T, Peltomäki Päivi, Nyström-Lahti Minna

Abstract excerpt

BACKGROUND & AIMS: Hereditary nonpolyposis colorectal cancer is associated with mismatch repair deficiency. Most predisposing mutations prevent the production of functional mismatch repair protein. Thus, when the wild-type copy is also inactivated, the cell becomes mismatch repair deficient, and this leads to a high degree of microsatellite instability in tumors. However, tumors linked to nontruncating mutations...

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 Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Base Pair Mismatch

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Repair Enzymes

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Share to Neoplasm Proteins

Source

Identifiers

PMID: 12891553
DOI: 10.1016/s0016-5085(03)00905-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.PMID 12891553Read ↗

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.Semantic proximity Read ↗

Expression Defect Size among Unclassified MLH1 Variants Determines Pathogenicity in Lynch Syndrome DiagnosisSemantic proximity Read ↗

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.Semantic proximity Read ↗

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

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

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.Semantic proximity Read ↗

Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer.Semantic proximity Read ↗

The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.Semantic proximity Read ↗

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.Semantic proximity Read ↗

TheMLH1variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formationSemantic proximity Read ↗

Comprehensive functional assessment of MLH1 variants of unknown significance.Semantic proximity Read ↗

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.Semantic proximity Read ↗

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