There is a need to improve early detection, monitoring of relapse, and treatments for melanoma, to increase long-term survival. My research vision is to use innovative and cutting edge approaches to conduct a range of complementary studies under three broad but inter-related themes: Theme 1 – Genetic predisposition to melanoma in the general population; Theme 2 – Genetic predisposition to melanoma in high-density families; Theme 3 – Somatic aberrations underlying melanoma development.
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
The three interlocking aims of this fellowship are to address the contribution of specific genes to melanoma development in: (i) families (ii) the general population (iii) tumour progression. The findings will be used to develop better models to predict which individuals in the population are at greatest risk of melanoma and to identify molecular targets for the design of new therapies to treat this disease.
Exploring The Function Of Breast Cancer-Associated Variants In Long Non-Coding RNAs
Funder
National Health and Medical Research Council
Funding Amount
$501,585.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known protein coding genes, suggesting that non-protein coding genes could be responsible for the associated risk. The aim of this proposal is to identify and characterise these non-coding genes. Understanding how sequences variations in these novel genes contribute to breast cancer will provide novel a ....Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known protein coding genes, suggesting that non-protein coding genes could be responsible for the associated risk. The aim of this proposal is to identify and characterise these non-coding genes. Understanding how sequences variations in these novel genes contribute to breast cancer will provide novel avenues for therapy.Read moreRead less
An International Whole Genome Study To Definitively Map Heritable Risk In Sarcomas
Funder
National Health and Medical Research Council
Funding Amount
$836,550.00
Summary
We want to understand why some people get sarcomas, and others do not. This is likely due to genetic causes, because these cancers affect the young. We now have the tools to address this question, and have created the largest and best characterised study of sarcoma families in the world upon which to apply these tools. This project will create an enduring foundation for research into the genetic basis of sarcomas for the next 20 years.
I am interested in using new technologies to understand how and why cancers develop. I am focused on sarcomas, cancers that particularly affect the young, but rare and neglected cancers more generally. I want to use the knowledge we can gain from basic research to develop new models of clinical care, that will reduce the morbidity and mortality from these deadly diseases.
A Worldwide Study Of Cancer Risk For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$710,761.00
Summary
People with the genetic Lynch syndrome are more likely to get cancer but we cannot accurately predict who will get cancer and when. Doctors need this information to improve cancer prevention. Large collaborative studies are needed for this research. We have agreement from the 115 researchers to combine, into a single resource, 8,863 family trees of Lynch syndrome. We will analyse this data to determine the risk of cancer and whether it differs by sex, age, or nationality.
Molecular Determinants Of Susceptibility And Progression In Breast Cancer
Funder
National Health and Medical Research Council
Funding Amount
$6,006,551.00
Summary
Breast cancer is heterogeneous, making management a challenge. High-grade cancers including the ‘basal’ type are aggressive, often found in young women and have a propensity for distant spread. They are also associated with a BRCA1 gene mutation. We will study mechanisms that predispose some women to develop breast cancer, the process that allows cancers to grow at distant sites such as the brain and lungs, and how DNA repair proteins are implicated. This will allow development of new diagnostic ....Breast cancer is heterogeneous, making management a challenge. High-grade cancers including the ‘basal’ type are aggressive, often found in young women and have a propensity for distant spread. They are also associated with a BRCA1 gene mutation. We will study mechanisms that predispose some women to develop breast cancer, the process that allows cancers to grow at distant sites such as the brain and lungs, and how DNA repair proteins are implicated. This will allow development of new diagnostic tools and treatments.Read moreRead less
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