Human Genetics

, Volume 125, Issue 5–6, pp 493–506

Mutational spectra of human cancer

Review Article

DOI: 10.1007/s00439-009-0657-2

Cite this article as:
Pfeifer, G.P. & Besaratinia, A. Hum Genet (2009) 125: 493. doi:10.1007/s00439-009-0657-2


The purpose of this review is to summarize the evidence that can be used to reconstruct the etiology of human cancers from mutations found in tumors. Mutational spectra of the tumor suppressor gene p53 (TP53) are tumor specific. In several cases, these mutational spectra can be linked to exogenous carcinogens, most notably for sunlight-associated skin cancers, tobacco-associated lung cancers, and aristolochic acid-related urothelial tumors. In the TP53 gene, methylated CpG dinucleotides are sequences selectively targeted by endogenous and exogenous mutagenic processes. Recent high-throughput sequencing efforts analyzing a large number of genes in cancer genomes have so far, for the most part, produced mutational spectra similar to those in TP53 but have unveiled a previously unrecognized common G to C transversion mutation signature at GpA dinucleotides in breast cancers and several other cancers. Unraveling the origin of these G to C mutations will be of importance for understanding cancer etiology.

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Department of Cancer Biology, Beckman Research InstituteCity of Hope DuarteUSA

Personalised recommendations