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Article

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

Genes, chromosomes & cancer - 1 Feb 2002

Nyström-Lahti Minna, Perrera Claudia, Räschle Markus, Panyushkina-Seiler Elena, Marra Giancarlo, Curci Anna, Quaresima Barbara, Costanzo Francesco, D'Urso Michele, Venuta Salvatore, Jiricny Josef

Abstract excerpt

Hereditary nonpolyposis colon cancer (HNPCC) is associated with malfunction of postreplicative mismatch repair (MMR). While a majority of HNPCC-associated mutations in the MMR genes MLH1, MSH2, or MSH6 genes cause truncations-and thus loss of function--of the respective polypeptides, little is currently known about the biochemical defects associated with nontruncating mutations. We studied the interactions of six...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis

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Source

Identifiers

PMID: 11793442

Genes

MLH1
PMS2
MSH2
MSH6

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.

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