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Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas

Lawrence A Donehower1, Thierry Soussi2, Anil Korkut3

  • 1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, TX 77030, USA.

Cell Reports
|August 1, 2019
PubMed

Insights

TP53 mutations are common in cancers and lead to genomic instability and altered gene expression. These changes in the TP53 pathway significantly impact tumor development and reduce patient survival across multiple cancer types.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • The TP53 tumor suppressor gene is frequently altered in human cancers.
  • Understanding the p53 pathway's role is crucial for cancer research.

Purpose of the Study:

  • To comprehensively assess p53 pathway involvement in 32 cancer types using TCGA data.
  • To investigate the genomic and expression consequences of TP53 mutations.

Main Methods:

  • Analysis of 10,225 patient samples across 32 cancer types from five data platforms.
  • Examination of TP53 mutation status, second allele loss, and chromosomal instability.
  • Assessment of RNA, miRNA, and protein expression patterns in tumors with and without TP53 mutations.

Main Results:

  • Over 91% of TP53-mutant cancers showed second allele loss.
  • TP53 mutations correlated with increased chromosomal instability, oncogene amplification, and tumor suppressor gene deletion.
  • Mutant TP53 tumors exhibited distinct expression profiles, including enhanced cell cycle gene and protein expression.
  • A mutant TP53 RNA expression signature was linked to reduced survival in 11 cancer types.

Conclusions:

  • TP53 mutations profoundly impact tumor cell genomic structure and expression.
  • TP53 mutation status is a significant factor in cancer development and clinical outcome.
  • Targeting the p53 pathway may offer therapeutic strategies for various cancers.
Keywords:
PanCanAtlasTCGATP53TP53 mutationThe Cancer Genome Atlaschromosomal instabilityp53p53 signaling pathwayp53 signaturep53 targets

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