The importance of p53 pathway genetics in inherited and somatic cancer genomes

Giovanni Stracquadanio, Xuting Wang, Marsha D Wallace, Anna M Grawenda, Ping Zhang, Juliet Hewitt, Jorge Zeron-Medina, Francesc Castro-Giner, Ian P Tomlinson, Colin R Goding, Kamil J Cygan, William G Fairbrother, Laurent F Thomas, Pål Sætrom, Federica Gemignani, Stefano Landi, Benjamin Schuster-Böckler, Douglas A Bell, Gareth L Bond

Research output: Contribution to journalReview articlepeer-review

80 Citations (Scopus)


Decades of research have shown that mutations in the p53 stress response pathway affect the incidence of diverse cancers more than mutations in other pathways. However, most evidence is limited to somatic mutations and rare inherited mutations. Using newly abundant genomic data, we demonstrate that commonly inherited genetic variants in the p53 pathway also affect the incidence of a broad range of cancers more than variants in other pathways. The cancer-associated single nucleotide polymorphisms (SNPs) of the p53 pathway have strikingly similar genetic characteristics to well-studied p53 pathway cancer-causing somatic mutations. Our results enable insights into p53-mediated tumour suppression in humans and into p53 pathway-based cancer surveillance and treatment strategies.

Original languageEnglish
Pages (from-to)251-265
Number of pages15
JournalNature Reviews Cancer
Issue number4
Early online date24 Mar 2016
Publication statusPublished - Apr 2016


  • Genetic Predisposition to Disease/genetics
  • Genome, Human
  • Humans
  • Mutation
  • Neoplasms/genetics
  • Polymorphism, Single Nucleotide/genetics
  • Tumor Suppressor Protein p53/genetics


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