Send to

Choose Destination
Nat Rev Cancer. 2016 Apr;16(4):251-65. doi: 10.1038/nrc.2016.15.

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

Author information

Ludwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Oxford OX3 7DQ, UK.
Environmental Genomics Group, Genome Integrity and Structural Biology, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.
Vall d'Hebron University Hospital, Oncology Department, Passeig de la Vall D'Hebron 119, 08035 Barcelona, Spain.
Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Center for Computational Molecular Biology, Brown University, 115 Waterman Street, Providence, Rhode Island 02912, USA.
Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, Rhode Island 02903, USA.
Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, NO-7491 Trondheim, Norway.
Department of Computer and Information Science, Norwegian University of Science and Technology, NO-7491 Trondheim, Norway.
Genetics, Department of Biology, University of Pisa, Via Derna 1, 56126 Pisa, Italy.


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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center