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Mainstreaming genetic testing of cancer predisposition genes

Mainstreaming genetic testing of cancer predisposition genes

1. Nazneen Rahman, head Division of Genetics and Epidemiology^A, head, Cancer Genetics Clinical Unit^B⇑

+Author Affiliations

1. ^AThe Institute of Cancer Research, Sutton, Surrey, UK
2. ^BThe Royal Marsden NHS Foundation Trust, Sutton, Surrey, UK

1. Address for correspondence: Prof N Rahman, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG. Email: rahmanlab@icr.ac.uk

KEYWORDS 

• Cancer predisposition genes
 
• gene testing
 
• next-generation sequencing
 
• BRCA1
 
• BRCA2

Cancer predisposition genes (CPGs) describe genes in which germline mutations result in increased risk of cancer. Over 100 CPGs have already been discovered and transformative advances in DNA analysis are leading to many new CPG discoveries. These fast, affordable methods for analysing the DNA sequence can also be utilised in diagnostics to substantially increase clinical testing of CPGs. In turn, this has potential to provide substantial cost-effective health benefits with respect to cancer treatment in people with the disease and cancer prevention in healthy individuals. In this review, I outline the clinical benefits of testing for CPGs and how increased testing can be achieved.