Can probability of genetic mutation be an indicator of clinical relevance?

Research output: Contribution to journalJournal Article peer-review

2 Scopus citations

Abstract

NPM1 gene mutation evaluated on a population basis is a valuable and realistic tool to reflect the pathophysiological relevance of cancer. In a comparison of the NPM1 cDNA of human bladder cancer with its consensus sequence, we have found that a higher NPM1 sequence identity in a population is consistent with poor tumor differentiation, advanced tumor stage, and likelihood of recurrence. These data imply that "probability" of NPM1 mutation is an indicator of status of malignancy.

Original languageEnglish
Pages (from-to)746-750
Number of pages5
JournalGenomics
Volume90
Issue number6
DOIs
StatePublished - 12 2007

Keywords

  • Gene identity
  • Genetic variations
  • Nucleophosmin
  • Population genetics
  • Probability of mutation

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