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Review
. 2014 Jan 16;505(7483):302-8.
doi: 10.1038/nature12981.

Realizing the promise of cancer predisposition genes

Nazneen Rahman  1
Affiliations
Review

Realizing the promise of cancer predisposition genes

Nazneen Rahman. Nature. .

Erratum in

  • Nature. 2014 Jun 5;510(7503):176

Abstract

Genes in which germline mutations confer highly or moderately increased risks of cancer are called cancer predisposition genes. More than 100 of these genes have been identified, providing important scientific insights in many areas, particularly the mechanisms of cancer causation. Moreover, clinical utilization of cancer predisposition genes has had a substantial impact on diagnosis, optimized management and prevention of cancer. The recent transformative advances in DNA sequencing hold the promise of many more cancer predisposition gene discoveries, and greater and broader clinical applications. However, there is also considerable potential for incorrect inferences and inappropriate clinical applications. Realizing the promise of cancer predisposition genes for science and medicine will thus require careful navigation.

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Figures

Figure 1
Figure 1. Chromosomal location of 114 Cancer Predisposition Genes
Gain-of-function mutations predispose to cancer in genes in red text. Loss-of-function mutations predispose to cancer in genes in black text.
Figure 2
Figure 2. Timeline of Cancer Predisposition Gene Discovery
The cumulative total of CPGs discovered since 1982 is shown by the solid line. The number of CPGs discovered each year and the discovery method used is shown in the graph. See text for fuller explanation of the different methods.
Figure 3
Figure 3. Overlap between somatically mutated cancer genes and cancer predisposition genes
468 genes with somatic driver mutations in cancers are recorded in COSMIC of which 49 are also included within the 114 cancer predisposition genes.
See this image and copyright information in PMC

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