Format

Send to

Choose Destination
Hum Genet. 2009 Jun;125(5-6):493-506. doi: 10.1007/s00439-009-0657-2. Epub 2009 Mar 24.

Mutational spectra of human cancer.

Author information

1
Department of Cancer Biology, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA. gpfeifer@coh.org

Abstract

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.

PMID:
19308457
PMCID:
PMC2824590
DOI:
10.1007/s00439-009-0657-2
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Springer Icon for PubMed Central
Loading ...
Support Center