Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.

doi:10.1038/371075a0

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Article

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.

Nature - 1 Sept 1994

Nicolaides N C, Papadopoulos N, Liu B, Wei Y F, Carter K C, Ruben S M, Rosen C A, Haseltine W A, Fleischmann R D, Fraser C M

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases. Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of this disease. In particular, hMSH2 and hMLH1 homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases. Here we report the nucleotide sequence, chromosome...

Topics

Adenosine Triphosphatases
Amino Acid Sequence
Colorectal Neoplasms, Hereditary Nonpolyposis
DNA
DNA Repair Enzymes
DNA-Binding Proteins
Genes, Fungal
Humans
Mismatch Repair Endonuclease PMS2
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

MutL Proteins

Mutation

Neoplasm Proteins

Sequence Homology, Amino Acid

Sequence Tagged Sites

Tumor Cells, Cultured

Source

Open in PubMed

Identifiers

PMID: 8072530
DOI: 10.1038/371075a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8072530-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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