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A Genomic Approach Towards An Understanding Of Clonal Evolution And Disease Progression In Multiple Myeloma
Funder
National Health and Medical Research Council
Funding Amount
$671,689.00
Summary
Cancer development is associated with changes in the genetic composition of the cell. These changes involve the loss/gain of genetic material and/or changes in gene expression. Using sophisticated technology, we will define the changes in the genes that are associated with the transition from a benign to a malignant cancer state. We will examine this process in the blood cancer, multiple myeloma, in order to identify new treatment targets for this incurable disease.
An International Population-Based Study Into The Genetic Epidemiology Of Melanoma
Funder
National Health and Medical Research Council
Funding Amount
$408,768.00
Summary
Melanoma is the most aggressive form of skin cancer and is a major public health issue in Australia. This project aims to find genes and levels of sun exposure, plus ways the genes and exposure interact with each other, that increase people’s risk of melanoma and how long they survive after diagnosis. The results will help to identify people at a higher risk of disease earlier and also better predict prognosis in those already diagnosed.
Next-generation Sequencing Of Candidate Ovarian Tumour Suppressor Genes
Funder
National Health and Medical Research Council
Funding Amount
$101,899.00
Summary
In Australia in 2001 there were approximately 1300 new cases of ovarian cancer. Survival of ovarian cancer is very poor and current treatments inadequate. To develop more effective treatments we need to understand the molecular events that cause ovarian cancer. Some genes are inactivated by loss of a copy or mutation. We aim to find these genes using new DNA sequencing techniques.
Translation Of PALB2 Genetic Information Into Breast Cancer Clinical Genetic Services
Funder
National Health and Medical Research Council
Funding Amount
$423,081.00
Summary
Today in Australia women attending clinical genetics services and receiving genetic counselling due to a personal and/or family history of breast cancer are not considered for testing of PALB2 despite mounting evidence that the risk of breast cancer in mutation carriers is at least as high as the risk for BRCA2 mutation carriers. This project will provide the evidence base to support the incorporation of PALB2 gene testing into routine clinical genetics services both in Australia and around the ....Today in Australia women attending clinical genetics services and receiving genetic counselling due to a personal and/or family history of breast cancer are not considered for testing of PALB2 despite mounting evidence that the risk of breast cancer in mutation carriers is at least as high as the risk for BRCA2 mutation carriers. This project will provide the evidence base to support the incorporation of PALB2 gene testing into routine clinical genetics services both in Australia and around the world.Read moreRead less
Finding Genetic Risk Markers For Endometrial And Other Cancers
Funder
National Health and Medical Research Council
Funding Amount
$370,668.00
Summary
Studies investigating thousands of genetic markers have revolutionised our understanding of genes involved in cancer. They have also shown that a single gene can be associated with multiple cancers. This project will discover new genes involved in endometrial cancer by detailed genetic analysis, and investigate the genetic similarities between endometrial cancer and different cancers. Results will improve the understanding of cancer and provide opportunity to discover future cancer treatments.
Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres ....Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres on the development, refinement and application of novel statistical analysis methods in genetics. Future advances in statistical and computational methods are essential if we are to exploit the large volumes of genome data now being generated to help develop diagnostics and interventions to improve public health.Read moreRead less
Evaluation Of Unclassified Variants Of BRCA1 And BRCA2 Using A Multifactorial Approach
Funder
National Health and Medical Research Council
Funding Amount
$456,495.00
Summary
The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that may slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of th ....The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that may slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of the sequence change. Consequently, it is not possible to offer informative genetic counselling to these women or their at-risk family members. Assessment of the potential pathogenicity and functional significance of these unclassified sequence variants will be directly useful with regard to the clinical management of these women and their families, and will develop our current understanding of how different domains of these genes contribute to their role as cancer susceptibility genes. In addition, some of our experiments to classify variants may be useful as a screening tool to identify carriers of mutations, and so prioritize them for mutation screening.Read moreRead less
Novel Therapeutic Approaches To Ovarian Clear Cell Cancer
Funder
National Health and Medical Research Council
Funding Amount
$500,920.00
Summary
Our study aims to develop novel therapies for clear cell ovarian cancer, a disease that is generally resistant to conventional therapies. We have found unexpected parallels between kidney cancer and ovarian clear cell cancer, and this has been used to better treat patients. This study investigates the underlying molecular changes the control ovarian clear cell cancer growth.