Replacement of normal with mutant alleles in the genome of normal human cells unveils mutation-specific drug responses

Proc Natl Acad Sci U S A. 2008 Dec 30;105(52):20864-9. doi: 10.1073/pnas.0808757105. Epub 2008 Dec 23.

Abstract

Mutations in oncogenes and tumor suppressor genes are responsible for tumorigenesis and represent favored therapeutic targets in oncology. We exploited homologous recombination to knock-in individual cancer mutations in the genome of nontransformed human cells. Sequential introduction of multiple mutations was also achieved, demonstrating the potential of this strategy to construct tumor progression models. Knock-in cells displayed allele-specific activation of signaling pathways and mutation-specific phenotypes different from those obtainable by ectopic oncogene expression. Profiling of a library of pharmacological agents on the mutated cells showed striking sensitivity or resistance phenotypes to pathway-targeted drugs, often matching those of tumor cells carrying equivalent cancer mutations. Thus, knock-in of single or multiple cancer alleles provides a pharmacogenomic platform for the rational design of targeted therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Antineoplastic Agents / pharmacology*
  • Antineoplastic Agents / therapeutic use
  • Cell Line
  • Drug Delivery Systems / methods
  • Drug Screening Assays, Antitumor
  • Gene Expression Regulation, Neoplastic / genetics*
  • Gene Knock-In Techniques*
  • Genes, Tumor Suppressor*
  • Humans
  • Models, Biological
  • Mutation*
  • Neoplasms / drug therapy*
  • Neoplasms / genetics*

Substances

  • Antineoplastic Agents