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

Realizing the promise of cancer predisposition genes.

Author information

1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SW2 5NG, UK. [2] Cancer Genetics Unit, Royal Marsden Hospital Foundation Trust, London SM2 5PT, UK.

Erratum in

  • Nature. 2014 Jun 5;510(7503):176.


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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