A Vulvar Cancer Cluster In Young Indigenous Women In Arnhem Land: Investigation Of Community Knowledge, Genetic Susceptibility And Supportive Care Response
Funder
National Health and Medical Research Council
Funding Amount
$711,841.00
Summary
Cancer of the vulva is 50 times more common in young Aboriginal women in Arnhem Land than in other women. Human Papillomavirus (HPV), which also causes cervical cancer, is the usual cause of this cancer; initial investigations have found that HPV is present in these cancers but is not the reason for the excessive incidence. This study will investigate local knowledge about this disease, and whether inherited susceptibility or an environmental cancer-causing substance are the cause of the excess.
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.
Prediction, Verification, And Clinical Significance Of Splicing Aberrations Associated With BRCA1 And BRCA2 Variants
Funder
National Health and Medical Research Council
Funding Amount
$572,995.00
Summary
There are many families with sequence changes in the breast cancer genes BRCA1 and BRCA2 for which the consequences cannot be easily predicted. It is not possible to offer informative genetic counselling to these women or their at-risk family members. This study aims to refine computer prediction models that are used to predict if sequence changes disrupt the way the gene product is collated in the cell, and what amount of disruption will lead to cancer. This will improve patient management.
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.
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
Molecular Determinants Of Risk, Progression And Treatement Response In Melenoma
Funder
National Health and Medical Research Council
Funding Amount
$12,947,193.00
Summary
Melanoma is a major Australian health problem. It is the third most common cancer in men and women and has a disproportionately heavy impact on productive years of life because it is the common cause of cancer death in younger adults. The investigators are all associated with the Melanoma Institute Australia, incorporating the Sydney Melanoma Unit (SMU). MIA is the world’s largest clinical service dedicated to the treatment of melanoma, treating >1500 new melanoma patients annually and mainta ....Melanoma is a major Australian health problem. It is the third most common cancer in men and women and has a disproportionately heavy impact on productive years of life because it is the common cause of cancer death in younger adults. The investigators are all associated with the Melanoma Institute Australia, incorporating the Sydney Melanoma Unit (SMU). MIA is the world’s largest clinical service dedicated to the treatment of melanoma, treating >1500 new melanoma patients annually and maintains a repository of clinical data on melanoma and a large melanoma tissue bank. The Program has also recruited large numbers of people from the community, as well as people with a strong family history of melanoma, in order to study its causes. It aims to utilise these internationally-recognised resources to develop a scientific basis for 1) improved management of individuals at high risk for development and progression of melanoma, and 2) improved treatment of patients with early and disseminated melanoma, in an era of rapid change in the prospects of successfully treating this dangerous cancer. The Program will do this by consolidating and extending its existing collaborative research, supported by NHMRC since 2006.Read moreRead less
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.
FANC Gene Mutations In Acute Myeloid Leukaemia Biology And Treatment
Funder
National Health and Medical Research Council
Funding Amount
$900,780.00
Summary
We have found mutations in DNA repair genes in AML patients, and associated the presence of these with increased risk of developing AML. Our hypothesis is that the presence of these mutations leads to reduced efficiency of DNA repair, and increased risk of additional mutations and leukaemic transformation. Our aim is therefore to determine the changes associated with these mutations in blood cell precursors, and to investigate the potential of targeted therapies for this group of patients.
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.
Integration Of Genetic Testing For Risk Associated Genomic Variants And Rare Predisposition Genes Into The Management Of High Risk Hereditary Breast Cancer Families
Funder
National Health and Medical Research Council
Funding Amount
$645,457.00
Summary
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.