Professor Antoniou is a genetic epidemiologist and has made major contributions to the understanding of the genetic basis of common cancers and the development of cancer risk prediction models. Using innovative approaches to analyse data from large population-based and family studies, he has provided reliable estimates of cancer risks for carriers of mutations and BRCA1 and BRCA2 that are used every day in the clinic. His work showed that PALB2 was a high-risk breast cancer gene. He leads the coordinating centre of the international Consortium of Modifiers of BRCA1/2 and has demonstrated the importance of genetic modifiers of cancer risk for BRCA1 and BRCA2 carriers and that these modifiers lead to clinically important differences in cancer risk. He led the development of the multifactorial BOADICEA model using large-scale multimodal datasets. BOADICEA is used to predict breast and ovarian cancer risks using genetic, lifestyle, hormonal, anthropometric, and imaging risk factors. His team implemented BOADICEA into the CanRisk (www.canrisk.org) online tool used by clinicians across the world to counsel thousands of patients daily, to guide decisions on screening and surgical and medical prevention of disease. CanRisk is endorsed by clinical guidelines in several countries. He currently leads the CanRisk programme of work that aims to enable cancer risk prediction within routine frontline healthcare in the UK; and he is director of the Cancer Research UK, Cancer Data Driven Detection (CD3) initiative.
CanRisk: personalising breast cancer risk prediction for prevention and early detection
Much more reliable and powerful breast cancer risk prediction can be achieved by combining data on all known genetic, lifestyle and hormonal risk factors for the disease. We have recently enabled multifactorial breast cancer risk-assessment through the BOADICEA model. This has been implemented in the CanRisk tool (www.canrisk.org) which allows healthcare professionals to obtain personalised cancer risks easily. The presentation will review the latest progress in BOADICEA/CanRisk development, the challenges in combining the effects of rare pathogenic variants in known susceptibility genes, polygenic risk scores, questionnaire-based risk factors, mammographic density, ethnicity and family history into multifactorial cancer risk prediction algorithms; and will review the efforts to assess the clinical validity of the predicted risks in large independent studies. The presentation will finally discuss ongoing efforts for the implementation of multifactorial cancer risk assessment in routine clinical practice for enabling cancer risk stratification and the better targeting of early detection and prevention approaches to those most likely to benefit.
Telephone: 01332 227773
Email: bsbr@kc-jones.co.uk