Development of a national framework to identify and monitor individuals and families with high penetrance inherited cancer syndromes

Principal Investigator: Dr Marc Tischkowitz, Department of Medical Genetics

Co-Investigator: Professor Paul Pharoah, Department of Public Health and Primary Care

Funded by: CRUK Cambridge Centre Early Detection Programme Pump Priming Awards 2016

This project aim is to develop a national framework to identify and monitor individuals and families with high penetrance inherited cancer syndromes. Such individuals have (on average) a greatly increased risk of cancer and frequently develop multiple tumours. Hence trials of early detection (e.g. imaging, circulating tumour DNA etc.) can be more efficiently performed in a small number of high risk individuals than in larger numbers of individuals at population risk.

This addresses one of the major challenges in Early Detection, namely the ability to target early detection approaches to appropriate high risk populations.