Molecular Pathology of Human Genetic Disease

Summary

Our project aims to find out why some people are more likely to develop tumours in the kidney or endocrine glands or develop multiple different tumours. To help us understand whether rare genetic changes that we detect in patients with tumours are responsible for increasing tumour risks, we want to use information available from patients with other disorders recruited to NIHR Rare Disease BioResource. This will enable us to better develop genetic tests to identify individuals at increased risk of developing tumours and then arrange for them to be screened so that tumours are detected at an early stage. Better knowledge about genetic alterations that predispose to tumour development can also enable new cancer treatments to be developed.