Breast Cancer Risk After Diagnostic Gene Sequencing (BRIDGES)
Funder
National Health and Medical Research Council
Funding Amount
$471,281.00
Summary
In BRIDGES, we aim to build a knowledge base to better define individual breast cancer risk. We bring together, in a multidisciplinary team, data and expertise from clinical genetics, epidemiology, bioinformatics, statistics, and gene biology. Specifically, we will use state-of-the art DNA screening to evaluate all suspected breast cancer genes in a large sample of breast cancer cases and controls. We will then use in silico and in vitro functional analyses to evaluate the likely pathogenicity o
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.Read moreRead less
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.
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.
The Influence Of A-actinin-3 On Muscle Structure, Metabolism, Performance And Response To Diet And Disease
Funder
National Health and Medical Research Council
Funding Amount
$624,355.00
Summary
We have identified a common genetic variant that results in absence of the fast muscle fibre protein a-actinin-3 in more than one billion humans worldwide. Loss of a-actinin-3 influences elite athletic performance, muscle bulk and strength in the general population, response to diet and exercise, and susceptibility to developing type 2 diabetes. We will now study mice and humans to determine how this gene influences variations in human performance, metabolism and severity of muscle disease.
Identification Of The Gene For A Novel Syndrome Of Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach (GAPPS)
Funder
National Health and Medical Research Council
Funding Amount
$378,152.00
Summary
We have identified a previous undescribed syndrome of multiple polyps in the stomach, and a tendency to develop stomach cancer. We are now want to identify the gene responsible, and to determine if it plays a part in the development of other cancers that occur outside people with this rare syndrome.