Germline Epimutations Of Tumour Suppressor Genes In Familial Cancer
Funder
National Health and Medical Research Council
Funding Amount
$502,500.00
Summary
In the case of bowel cancer, studies of the pattern of disease in our community indicate that up to 20% of all bowel cancers has a inherited component . We now know the genetic abnormality in up to 4% of these cases. We have recently discovered a previously unrecognised cause of cancer. Individuals who are affected by this disease may have cancer in the bowel, as well as the breast and womb. In this condition the gene alphabet is correct but the genes are chemically modified. This change called ....In the case of bowel cancer, studies of the pattern of disease in our community indicate that up to 20% of all bowel cancers has a inherited component . We now know the genetic abnormality in up to 4% of these cases. We have recently discovered a previously unrecognised cause of cancer. Individuals who are affected by this disease may have cancer in the bowel, as well as the breast and womb. In this condition the gene alphabet is correct but the genes are chemically modified. This change called methylation means that certain genes are spelt incorrectly or not at all. To date we have found two individuals who have this problem. Our work has shown that these individuals have inherited a genetic change and potentially could pass this change on to their offspring. This grant application seeks to formally pursue this findng. We will study a group of people in whom the genetic cause for their cancer remains unknown. Blood samples from these individuals will be examined for methylation of their DNA. A successful project will lead to a full description of this new type of hereditary cancer, and thus serve as the basis for identifying and effectively managing people and families at risk of this disease. It is likely that identification of individuals who are 'at risk' of cancer will allow us to implement preventative screening strategies. We will also be able to provide reassurance to those family members who have not inherited the methylation abnormality.Read moreRead less
Identification Of Novel Colorectal Cancer Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$358,093.00
Summary
Colon cancer is one of the most common cancers, with around 1 million cases diagnosed annually. These cancers can be caused by a combination of lifestyle/environmental and genetic factors. Genetics cause ~30% of colon cancers, although the cause is unexplained in ~2/3 of these cases. The aim of this project is to discover new colon cancer genes by extensive gene sequencing of multi-case unexplained colon cancer families, and screening of additional cases and cancer-free individuals.
TRACEBACK - Identification Of Women Carrying Germline BRCA1/2 Mutations Through A Retrospective Analysis Of Patients Diagnosed With High Grade Serous Ovarian Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$83,284.00
Summary
Inheriting a mutated-BRCA is associated with significant risk of developing cancer. It is a crucial diagnosis to make with proven procedures that can reduce the risk of cancer developing. Ovarian cancer (HGSOC) is the tumour most strongly associated with BRCA (15-20%) and provides a diagnostic opportunity, but despite Australian guidelines <50% receive testing. Our aim is to provide BRCA1/2 screening opportunities to patients and families and improve the rate of BRCA testing Australia wide.
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.
Population Based Genetic Testing For High-risk Breast And Ovarian Cancer Predisposition Genes
Funder
National Health and Medical Research Council
Funding Amount
$1,112,985.00
Summary
Inherited mutations in BRCA1 and BRCA2 confer a very high risk of breast and ovarian cancer. Importantly, once carriers are identified, effective strategies are available that can dramatically reduce the risk of cancer. We will perform genetic testing of a healthy western population to identify breast/ovarian cancer genes before the women develop cancer. Population-based screening could significantly reduce the incidence of these diseases.
Genetics And Genomics Of Breast And Ovarian Cancer
Funder
National Health and Medical Research Council
Funding Amount
$714,745.00
Summary
Our knowledge of the number and nature of the genes involved in breast and ovarian cancer is limited. To rapidly define the critical breast and ovarian cancer-causing genes my laboratory uses an integrative genomics approach whereby information from several genome-wide platforms are combined. A key initiative that will underpin much of our work is Lifepool, which is a unique cohort of 100,000 Victorian women attending BreastScreen that will support a range of research into breast cancer.
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.