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.
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.
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) confers a high lifetime risk of developing cancer, especially colorectal and endometrial cancer. By characterising disease presentation in the patient cohort, HNPCC in an Australian context will be better defined. The aim of this proposal is to undertake a genetic investigation such that a more comprehensive personalised patient risk-assessment can be completed by identifying genes related to disease development.
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.
Genetic Variants, Phenotypic Spectrum And Breast Cancer Risk Associated With Germline Mutations In PALB2: Identifying Female PALB2 Mutation Carriers At The Time Of Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$45,093.00
Summary
Population studies of female breast cancer (BC) show only a small proportion of familial aspects of BC can be explained by current knowledge of its causes. Women carrying PALB2 mutations who also have a strong family history of BC are of increased risk of BC. Our work will further define the risks and devise criteria to identify women most likely to carry PALB2 mutations. This will help prioritize testing, classify PALB2 variants and provide appropriate clinical management to carriers.
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
Metagenomic Analysis To Determine The Prostate Microenvironment And The Aetiology Of Inflammatory Mediated Prostate Cancer
Funder
National Health and Medical Research Council
Funding Amount
$339,534.00
Summary
Infectious organisms have been implicated in the development of several different malignancies. This project aims to determine if this may also be applicable in prostate cancer and if so, to define which organism/s may be responsible, thus providing targets for improving diagnosis, treatment and prevention strategies. The approach will be to identify DNA in the prostate tumour tissue that is foreign to the �normal� prostate environment and indicative of an invading organism.
Leukaemia, the most common form of childhood cancer, constitutes an important component of Australia's overall cancer burden. We aim to improve our understanding of the genetic and familial contributions to this disease. By establishing the Victorian Paediatric Family Cancer Study, we have evidence of a relationship between maternal age, onset of leukaema and overall risk of cancer in the family. We aim to determine if this finding is genetically based, implying a larger inherited component than ....Leukaemia, the most common form of childhood cancer, constitutes an important component of Australia's overall cancer burden. We aim to improve our understanding of the genetic and familial contributions to this disease. By establishing the Victorian Paediatric Family Cancer Study, we have evidence of a relationship between maternal age, onset of leukaema and overall risk of cancer in the family. We aim to determine if this finding is genetically based, implying a larger inherited component than previously recognized.Read moreRead less
Tracking The Origins And Drivers Of Metastasis In Prostate Cancer
Funder
National Health and Medical Research Council
Funding Amount
$1,022,600.00
Summary
Prostate cancer is now the most commonly diagnosed cancer but only 10% of men with it, will die from it. Our current ability to discriminate between cancers with an indolent course and those that are lethal is poor. This project will examine the mixture of tumour clones (subclones) that are present in prostate cancers and define and track those cancer subclones that break away from the prostate and lodge in distant sites, causing death.
CLINICAL CHARACTERIZATION OF GENETICALLY DEFINED GERMLINE SUB-GROUPS OF MELANOMA AND BREAST CANCER PATIENTS.
Funder
National Health and Medical Research Council
Funding Amount
$140,949.00
Summary
In this project I will assess how cancer patients’ genetic makeup influences the nature and outcome of their cancer, especially in terms of how successful treatment is likely to be. We will show how key genetic variants influence cancer behaviour and by combining these genes we will have a better understanding of how to develop more successful treatments.