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

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

Genes, chromosomes & cancer - 1 Jul 2004

Raevaara Tiina E, Gerdes Anne-Marie, Lönnqvist Karin E, Tybjaerg-Hansen Anne, Abdel-Rahman Wael M, Kariola Reetta, Peltomäki Päivi, Nyström-Lahti Minna

Abstract excerpt

Heterozygous germ-line mutations in DNA mismatch repair (MMR) genes predispose individuals to hereditary nonpolyposis colorectal cancer (HNPCC), whereas with homozygous MMR gene mutations children are diagnosed at an early age with de novo neurofibromatosis type 1 (NF1) and/or hematological malignancies. Here, we describe a mutation, MLH1 P648S, which was found in a typical HNPCC family, with one homozygous child...

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 Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to HCT116 Cells

Share to MutL Protein Homolog 1

Share to Neurofibromatosis 1

Share to Proline

Share to Serine

Source

Identifiers

PMID: 15139004
DOI: 10.1002/gcc.20040

Genes

MLH1

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

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.PMID 15139004Read ↗

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

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.Semantic proximity Read ↗

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

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndromeSemantic proximity Read ↗

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

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

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

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genesSemantic proximity Read ↗

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

MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.Semantic proximity Read ↗

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.Semantic proximity Read ↗

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.Semantic proximity Read ↗

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