Genomic Profiling For The Prevention Of Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Bowel cancer is a major health issue but is also a preventable disease. Identifying who has a high risk of developing bowel cancer from someone who has a low risk is an important way to ensure preventative medical treatment is targeted to those who are at the highest risk and will ultimately save lives. I will utilise different genomic profiling approaches to identify risk factors for bowel cancer so that they can be used to identify high risk people in the population.
New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
Development Of A Comprehensive Model For Colorectal Cancer Risk Prediction
Funder
National Health and Medical Research Council
Funding Amount
$317,012.00
Summary
Bowel cancer is the second most common cause of cancer death in Australia. While the average lifetime risk is 1 in 20, this is a great difference in individual risks. Screening and early detection can prevent 90% of bowel cancer deaths. We need to know who is at high-risk and therefore can be targeted for screening. In this project, I will develop the first tool that can predict precisely an individual’s personal risk of bowel cancer.
Young Onset Colorectal Cancer: Genetics Pathology And Environment
Funder
National Health and Medical Research Council
Funding Amount
$439,180.00
Summary
There has been a steady increase since 2002, in the age-standardised incidence of CRC in males under 45 years in Australia, contrasting with the stabilisation in incidence of CRC in males of age 45 years and over. Persons under 50 years are not routinely screened unless they have a significant family history of CRC. Young-onset rectal cancer is associated with late presentations and with a higher mortality. This proposal will address the possible risk factors for young-onset CRC.
Expanding Diagnostic Approaches For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$1,269,355.00
Summary
Currently, there are ~1,000 families who have attended Family Cancer Clinics across Australia who have the hallmarks of having Lynch syndrome, a hereditary bowel cancer syndrome, but who have no gene defect identified, i.e. their cancer is unexplained. Clinicians are challenged by these “Lynch-like” patients as their family cancer risk is unknown. Our research has identified new gene defects in Lynch-like patients. Our aim is to optimise clinical testing approaches for Lynch-like patients.