articleNature GeneticsJan 1, 2025HYBRID OA

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations

Philipps University of Marburg · Goethe University Frankfurt · +10 more institutions

PubMed
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Abstract

The mutational landscape of TP53, a tumor suppressor mutated in about half of all cancers, includes over 2,000 known missense mutations. To fully leverage TP53 mutation status for personalized medicine, a thorough understanding of the functional diversity of these mutations is essential. We conducted a deep mutational scan using saturation genome editing with CRISPR-mediated homology-directed repair to engineer 9,225 TP53 variants in cancer cells. This high-resolution approach, covering 94.5% of all cancer-associated TP53 missense mutations, precisely mapped the impact of individual mutations on tumor cell fitness, surpassing previous deep mutational scan studies in distinguishing benign from pathogenic…

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72
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100%
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Authors

25

Topics & keywords

Keywords
  • Biology
  • Missense mutation
  • Genetics
  • Nonsense mutation
  • CRISPR
  • Genome editing
  • Mutation
  • Computational biology
UN Sustainable Development Goals
  • Good health and well-being
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