Making sense of missense in Lynch syndrome

The clinical perspective

Henry T. Lynch, Thomas Jascur, Stephen J. Lanspa, C. Richard Boland

Research output: Contribution to journalReview article

2 Citations (Scopus)

Abstract

The DNA mismatch repair (MMR) system provides critical genetic housekeeping, and its failure is associated with tumorigenesis. Through distinct domains on the DNA MMR proteins, the system recognizes and repairs errors occurring during DNA synthesis, but signals apoptosis when the DNA damage cannot be repaired. Certain missense mutations in the MMR genes can selectively alter just one of these functions. This affects the clinical features of tumors associated with defective DNA MMR activity. New work reported by Xie et al. in this issue of the journal (beginning on page 1409) adds to the understanding of DNA MMR.

Original languageEnglish
Pages (from-to)1371-1374
Number of pages4
JournalCancer Prevention Research
Volume3
Issue number11
DOIs
StatePublished - Nov 2010

Fingerprint

Hereditary Nonpolyposis Colorectal Neoplasms
DNA Mismatch Repair
Housekeeping
Missense Mutation
DNA Damage
Carcinogenesis
Apoptosis
DNA
Genes
Neoplasms
Proteins

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Making sense of missense in Lynch syndrome : The clinical perspective. / Lynch, Henry T.; Jascur, Thomas; Lanspa, Stephen J.; Boland, C. Richard.

In: Cancer Prevention Research, Vol. 3, No. 11, 11.2010, p. 1371-1374.

Research output: Contribution to journalReview article

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