Stratifying risk for early detection in hereditary breast and ovarian cancer

Principal Investigators: Dr Marc Tischkowitz, University of Cambridge; Dr Allison Kurian, Stanford University and Prof Gareth Evans, University of Manchester
Funded by: ACED Project Award 2020

Women with germline pathogenic variants in breast cancer genes have an increased risk of developing breast cancer. Some women may benefit more from early detection strategies than others, but risk estimates are currently not tailored to the individual. In this proof-of-principle study, Prof Evans and Drs Tischkowitz and Kurian will use a risk prediction model to calculate personalised risk of breast and ovarian cancer in women, based on their polygenic risk score, family history, as well as lifestyle and hormonal risk factors. The team will assess the feasibility and acceptability of incorporating personalised risk estimates into standard clinical practice, and they will investigate the influence of conventional and personalised risk estimates on women’s uptake of early detection and risk reduction.