Functional consequences of DNA mismatch repair missense mutations in murine models and their impact on cancer predisposition

S. J. Scherer, E. Avdievich, Winfried Edelmann

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Mutations in MMR (DNA mismatch repair) genes underlie HNPCC (hereditary non-polyposis colon cancer) and also a significant proportion of sporadic colorectal cancers. MMR maintains genome stability and suppresses tumour formation by correcting DNA replication errors and by mediating an apoptotic response to DNA damage. Analysis of mouse lines with MMR missense mutations demonstrates that these MMR functions can be separated and allows the assessment of their individual roles in tumour suppression. These studies in mice indicate that, although the increased mutation rates caused by MMR defects are sufficient to drive tumorigenesis, both functions co-operate in tumour suppression.

Original languageEnglish (US)
Pages (from-to)689-693
Number of pages5
JournalBiochemical Society Transactions
Volume33
Issue number4
DOIs
StatePublished - Aug 2005

Fingerprint

DNA Mismatch Repair
Missense Mutation
Repair
DNA
Neoplasms
Tumors
Genomic Instability
Genes
Mutation Rate
DNA Replication
Colonic Neoplasms
DNA Damage
Colorectal Neoplasms
Carcinogenesis
Mutation
Defects

Keywords

  • Apoptosis
  • Colorectal cancer
  • DNA damage
  • DNA mismatch repair (MMR)
  • Mouse models

ASJC Scopus subject areas

  • Biochemistry

Cite this

Functional consequences of DNA mismatch repair missense mutations in murine models and their impact on cancer predisposition. / Scherer, S. J.; Avdievich, E.; Edelmann, Winfried.

In: Biochemical Society Transactions, Vol. 33, No. 4, 08.2005, p. 689-693.

Research output: Contribution to journalArticle

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