Cancer predisposition genes: Past glories, future imperatives


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Nazneen Rahman1
1The Institute of Cancer Research and The Royal Marsden Hospital Foundation Trust, London, UK

Abstract

Cancer predisposition genes (CPGs) describe genes in which rare germline mutations result in clinically important increased risks of cancer. Over the last 30 years, more than 100 cancer predisposition genes have been identified, resulting in increased risks of more than 40 different cancers. These discoveries have provided important insights into genetic determinants of disease and mechanisms of oncogenesis. They have also led to substantial clinical benefits for cancer patients and their relatives. Faster, cheaper sequencing technologies are leading to a new wave of cancer predisposition gene discoveries and will allow gene testing to become available to many more individuals. In turn this is providing tremendous opportunities to improve cancer treatment and prevention. However, there are also potential pitfalls and risks of harm. Realising the promise of cancer predisposition genes will thus require careful implementation.