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Research Topic : Familial hyperaldosteronism
Scheme : Project Grants
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  • Funded Activity

    Understanding The Function Of Recql4 In DNA Replication And Genome Maintenance

    Funder
    National Health and Medical Research Council
    Funding Amount
    $698,447.00
    Summary
    We are interested in understanding how cancer forms. We are using information from human cancers to understand how a protein causes cancer. We are using models to understand how mutations in this protein give rise to bone cancer. These models are used together with detailed biochemistry to understand how the mutations affect protein function.
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    Funded Activity

    Identifying The Missing Heritability Of Breast Cancer.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $461,104.00
    Summary
    One of the strongest risk factors for the development of breast cancer is having a close relative with the disease. Some advances have been made in understanding the specific genetic factors that underlie this susceptibility but these known genetic factors only explain about a third of the overall familial effects. This research will utilise our prior research, international research resources, new technology and supercomputing to identify the majority of genetic factors associated with breast c .... One of the strongest risk factors for the development of breast cancer is having a close relative with the disease. Some advances have been made in understanding the specific genetic factors that underlie this susceptibility but these known genetic factors only explain about a third of the overall familial effects. This research will utilise our prior research, international research resources, new technology and supercomputing to identify the majority of genetic factors associated with breast cancer susceptibility.
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    Funded Activity

    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.
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    Funded Activity

    High Risk Genes For Prostate Cancer

    Funder
    National Health and Medical Research Council
    Funding Amount
    $580,847.00
    Summary
    Some advances have been made in identifying genetic factors that underlie susceptibility to prostate cancer but few explain multiple-cases of prostate cancer in families. Linkage studies show that the unexplained familial aggregations of prostate cancer are likely to be explained by mutations in many genes. This research will utilize our prior research, our extensive research resources, new technology and supercomputing to identify genetic factors associated with prostate cancer susceptibility.
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    Funded Activity

    Identification Of Novel Genes Predisposing To Familial Colorectal Cancer By Full Exome Sequencing

    Funder
    National Health and Medical Research Council
    Funding Amount
    $158,188.00
    Summary
    A third of people who develop bowel cancer have a family history of the condition. Currently, we only understand the genes involved in a small number of these families. This proposal will use new genetic techniques to look for gene faults in the remaining families by sequencing all an individual’s genes simultaneously. By identifying new genes, we can accurately assess family members’ bowel cancer risk, effectively target surveillance and help reduce their risk of developing bowel cancer.
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    Funded Activity

    The Mutagenic Influence Of 5-methylcytosine And Its Relevance For Cancer Treatment

    Funder
    National Health and Medical Research Council
    Funding Amount
    $844,462.00
    Summary
    Over time our cells accumulate damage to their DNA, which introduces mistakes in the genetic code. These mistakes can alter genes that regulate cell growth and survival and, in this way, they begin the process of turning a normal cell into a cancer. This research is investigating the cellular repair mechanisms that safeguard against DNA damage. Manipulating these repair mechanisms may offer a new way to treat cancer, by selectively inducing DNA damage within cancer cells.
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    Funded Activity

    Identification Of Novel Genes Predisposing To Male Breast Cancer, Their Prevalence And Associated Cancer Risks.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $210,284.00
    Summary
    Male breast cancer (MBC) is rare and understudied. Using the latest technology, this study will identify new genes which cause familial MBC to aid in the genetic counselling and risk assessment of an affected man and his family. The frequency of these novel genes, and all known breast cancer genes will be assessed in a second group of affected men as well as families with an increased female breast cancer risk. By better understanding the cause of MBC, we can improve its management.
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    Funded Activity

    Development Of A Bioinformatic Tool For The Rapid Identification Of Candidate Disease Genes

    Funder
    National Health and Medical Research Council
    Funding Amount
    $436,367.00
    Summary
    Candidate disease gene prediction systems assist geneticists by using biological data to suggest genes likely to be causative of diseases in regions of the genome delineated by genetic studies. This area has been enabled by completion of the Human Genome Project and increased availability of high-throughput experimental data and sophisticated bioinformatic tools. Identification of disease genes will contribute to an understanding of disease, as well as its prevention, diagnosis, and treatment.
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    Funded Activity

    Tailoring Targeted Therapy To DNA Repair-defective High-Grade Serous Ovarian Cancer

    Funder
    National Health and Medical Research Council
    Funding Amount
    $802,247.00
    Summary
    Ovarian cancer is a major cause of cancer death in women because current treatments are inadequate. Half of aggressive ovarian cancers have abnormalities in DNA repair and should be susceptible to new PARP inhibitor therapy, yet not all those respond. By developing a new model of studying human ovarian cancers in mice, we can discover markers to predict which ovarian cancers will respond best to these exciting new treatments.
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    Funded Activity

    Psychosocial Predictors Of Developing Breast Cancer In Women From High Risk Breast Cancer Families

    Funder
    National Health and Medical Research Council
    Funding Amount
    $1,109,214.00
    Summary
    Over the past 20 years, studies have highlighted the possible roles of stressful life events and distress, possibly mediated by social support and personality, in causing or speeding up the development of breast cancer. This possibility is of strong concern to consumers. To date, there have been few well designed, prospective studies of this issue. Furthermore, no previous studies have specifically targeted women at increased risk because of their family history. In recent years, it has become p .... Over the past 20 years, studies have highlighted the possible roles of stressful life events and distress, possibly mediated by social support and personality, in causing or speeding up the development of breast cancer. This possibility is of strong concern to consumers. To date, there have been few well designed, prospective studies of this issue. Furthermore, no previous studies have specifically targeted women at increased risk because of their family history. In recent years, it has become possible to identify 2 breast cancer genes (BRCA1 and BRCA2). Female carriers of mutations in these genes with a strong family history have an estimated lifetime risk of between 35% and 85%. The Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) was established 11 years ago to coordinate the collection of genetic, epidemiological and clinical data in Australian and New Zealand families with a dominantly inherited predisposition to breast cancer. Due to the high rate of breast cancer diagnoses in this group, and the systematic recruitment of large numbers of high risk women by kConFab, there is a unique and temporary opportunity to conduct a rigorous study to resolve this question, with sufficient numbers involved. The study is a world first, and will provide the best data to date in this area. If the study demonstrates a relationship between psychosocial factors and the development of breast cancer in women from high risk breast cancer families, subsequent identification of vulnerable individuals and the implementation of appropriate interventions may have a real impact on reducing morbidity and mortality in this population. Furthermore, the results may have implications for all women in reducing breast cancer incidence.
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