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.
HEREDITARY ENDOCRINE CANCER: A MODEL BASED ON PHAEOCHROMOCYTOMA- PARAGANGLIOMA SYNDROMES
Funder
National Health and Medical Research Council
Funding Amount
$875,894.00
Summary
Phaeochromocytomas and paragangliomas are tumours remarkable for their very high heritability. They have a high burden of disease themselves, and their associated hereditary syndromes include risks for other malignancies. Our study will rationalize the pathological approach to diagnosing these hereditary syndromes, find new therapeutic targets for metastatic disease, and provide a template for other cancers with high heritable component.
Precision Prevention Of Colorectal Cancer: Understanding Tumourigenesis In High Risk People To Optimise Prevention
Funder
National Health and Medical Research Council
Funding Amount
$1,562,250.00
Summary
Bowel cancer, Australia’s second most common cause of cancer death, is one of the most preventable cancers. We know some people have a high risk because they carry changes in their DNA, or they have many pre-cancerous growths (polyps). Bowel cancer is increasing in young people, before 50 years of age, with no known reason. If we can identify people who have a high risk and understand how and why it develops in young Australians, we can prevent these cancers.
A Randomised Trial Of A Decision Aid For Women At Increased Risk For Ovarian Cancer
Funder
National Health and Medical Research Council
Funding Amount
$115,110.00
Summary
Epithelial ovarian cancer is the leading cause of death from gynaecological malignancy in Australia. The majority of women with ovarian cancer are diagnosed with advanced disease, and the chance of cure is low. The strongest risk factor for ovarian cancer identified to date is a family history of ovarian cancer, and up to 5% of all ovarian cancers are thought to be due to dominantly inherited mutations in a small number of ovarian-cancer-related genes. National guidelines on surveillance and pro ....Epithelial ovarian cancer is the leading cause of death from gynaecological malignancy in Australia. The majority of women with ovarian cancer are diagnosed with advanced disease, and the chance of cure is low. The strongest risk factor for ovarian cancer identified to date is a family history of ovarian cancer, and up to 5% of all ovarian cancers are thought to be due to dominantly inherited mutations in a small number of ovarian-cancer-related genes. National guidelines on surveillance and prophylactic strategies have recently been ratified. These are largely based on expert opinion. Because of the uncertain efficacy of ovarian cancer screening and the high mortality associated with ovarian cancer, prophylactic oophorectomy is considered an option for women at high risk. Decisions about optimal care are difficult for both women and their doctors. Efforts to improve services for women who are trying to make informed decisions about screening and prophylactic strategies under conditions of uncertainty must be informed by sound knowledge of the efficacy of educational interventions. Decision aids have been developed as adjuncts to practitioners' counselling to prepare patients for decision-making. The proposed randomised controlled trial will compare the efficacy of a general educational pamphlet and that of a tailored decision aid. A total of 120 women at risk for ovarian cancer who are attending one of five familial cancer clinics will be included in the trial to determine the efficacy of different educational interventions in preparing women for decision-making about screening and prophylactic options.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.
The Role And Inheritance Of Constitutional Epimutations In Early-onset Colorectal Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$347,551.00
Summary
Traditionally familial cancers are thought to be caused by spelling mistakes within the genetic code of cancer prevention genes. Our group has found that chemical attachments to one gene (MLH1) stops it working, even where there is no spelling mistake, and that those chemical changes can be inherited in families with bowel cancer. We will determine how frequently this type of defect occurs in bowel cancer patients, how and why it arises, and if other cancer genes are similarly affected.
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.
Psychosocial Impact Of Genetic Counselling And Testing
Funder
National Health and Medical Research Council
Funding Amount
$782,856.00
Summary
This research program assesses the psychological and behavioural impact of new genetic technologies to allow the identification of individuals most at risk of developing negative outcomes and the planning of appropriate targeted interventions. It will lead to the development, evaluation and dissemination of highly innovative patient education strategies that facilitate informed choices and support people in translating their choices into appropriate screening and risk-reducing behaviours.
Prof Lindeman's laboratory, co-headed with Dr Visvader, has played an influential role in the identification of mammary stem and progenitor cells, elucidation of the mammary epithelial cell hierarchy and gaining insights into how female hormones regulate mammary gland development and cancer. In parallel, I have established translational research platforms such as patient-derived tumour xenograft (PDX) models, which offer powerful preclinical models to test new drugs.