A census of human cancer genes

Abstract

A central aim of cancer research has been to identify the mutated genes that are causally implicated in oncogenesis (‘cancer genes’). After two decades of searching, how many have been identified and how do they compare to the complete gene set that has been revealed by the human genome sequence? We have conducted a ‘census’ of cancer genes that indicates that mutations in more than 1% of genes contribute to human cancer. The census illustrates striking features in the types of sequence alteration, cancer classes in which oncogenic mutations have been identified and protein domains that are encoded by cancer genes.

Figure 1. Mutation types in human cancer

Cancer genes showing somatic mutations, germline mutations or both somatic and germline mutations in human cancers.

Figure 2. Proportion of translocated genes in human cancer

Somatically mutated cancer genes with translocations, with mutations other than translocations or with both.

Figure 3. Dominant and recessive mutations in human cancer

a | Cancer genes with germline mutations acting in a dominant or recessive manner. b | Cancer genes with somatic mutations acting in a dominant or recessive manner.

Figure 4. Proportion of genes associated with different tumour types

a | Cancer genes with germline mutations by tumour class (for definitions see text and supplementary tables, the category ‘numerous’ refers to cancer genes with combinations of two or more classes). b | Cancer genes with somatic mutations by tumour class.