Principal Investigator: Professor Robert Klein
Department: Icahn School of Medicine at Mount SinaiTags: 57910, benign-prostatic-hyperplasia, cancer, GWAS, prostate-specific-antigen, rare-variant-tests, trichilemmal-cysts
Cancer is known to run in families. While great progress has been made in identifying some of the genetic changes one inherits from one’s parents that increase risk of developing cancer, many such changes remain to be identified. How knowledge of these changes can be incorporated into clinical practice so that individuals can be screened efficiently for cancer to enable early detection, early treatment, and improved outcomes is also unclear. Here, we will use the comprehensive linked genetic and clinical data in the UK Biobank to investigate these questions. Specifically, we will use the UK Biobank data to confirm the association of specific genetic changes with cancer risk and outcome using changes identified by us and others. We will use the UK Biobank data to perform screens across the entire human genome to identify previously uncharacterized genetic changes that influence risk or outcome of cancer. We will build complex models that integrate many of these genetic changes to improve prediction of who will develop cancer and what the course of the disease will be. We will also ask if the genetic changes associated with cancer influence other diseases as well. Given the large number of questions we plan to answer with the UK Biobank data, this project will take 36 months. At the end of the project, we will have an improved understanding of the role genetic changes play in the onset and progression of cancer. This will give new insight into disease biology, opening the way to future treatments. More directly, we will have developed predictive models that can be tested clinically for their ability to guide screening and treatment decisions to improve patient outcomes.