KConFaB - A CONSORTIUM FOR RESEARCH ON FAMILIAL BREAST CANCER
Funder
National Health and Medical Research Council
Funding Amount
$1,624,711.00
Summary
Breast cancer is the most common disease of women. In families with an inherited form of breast cancer, nearly half the women in every generation can develop the disease. The aim of this Australia-wide study is to collect clinical, epidemiological and genetic data on approximately 700 of these severely-affected families. This national resource will be of great value for researchers who want to identify and characterize the genetic and life-style factors that affect the onset and progression of t ....Breast cancer is the most common disease of women. In families with an inherited form of breast cancer, nearly half the women in every generation can develop the disease. The aim of this Australia-wide study is to collect clinical, epidemiological and genetic data on approximately 700 of these severely-affected families. This national resource will be of great value for researchers who want to identify and characterize the genetic and life-style factors that affect the onset and progression of the disease. The data emerging from the study will lead to more accurate genetic counselling, better surveillance and, ultimately, better methods to prevent and treat the disease in families who inherit a predisposition to the disease.Read moreRead less
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
Epimutations As Germ-line Defects In Hereditary Cancer Syndromes
Funder
National Health and Medical Research Council
Funding Amount
$385,925.00
Summary
Traditionally familial cancers were thought to be caused and inherited by spelling mistakes within the genetic code of cancer prevention genes. Our group has found that a 'chemical coat' around the MLH1 gene, causing it to be switched off, can also be inherited in some cases of bowel cancer, without any mistakes within the gene's code. We will determine if this 'coat' causes other types of cancer and if this runs in families. We also hope to find out how the coat is formed and may be reversed.
Genetics And Genomics Of Breast And Ovarian Cancer
Funder
National Health and Medical Research Council
Funding Amount
$714,745.00
Summary
Our knowledge of the number and nature of the genes involved in breast and ovarian cancer is limited. To rapidly define the critical breast and ovarian cancer-causing genes my laboratory uses an integrative genomics approach whereby information from several genome-wide platforms are combined. A key initiative that will underpin much of our work is Lifepool, which is a unique cohort of 100,000 Victorian women attending BreastScreen that will support a range of research into breast cancer.
Genetic Variants, Phenotypic Spectrum And Breast Cancer Risk Associated With Germline Mutations In PALB2: Identifying Female PALB2 Mutation Carriers At The Time Of Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$45,093.00
Summary
Population studies of female breast cancer (BC) show only a small proportion of familial aspects of BC can be explained by current knowledge of its causes. Women carrying PALB2 mutations who also have a strong family history of BC are of increased risk of BC. Our work will further define the risks and devise criteria to identify women most likely to carry PALB2 mutations. This will help prioritize testing, classify PALB2 variants and provide appropriate clinical management to carriers.
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.
Identification Of New Mutations That Contribute To Breast Cancer
Funder
National Health and Medical Research Council
Funding Amount
$323,825.00
Summary
Breast cancer affects approximately one in ten women and is therefore a major health problem. In order to improve the diagnosis, treatment and prognosis of this disease, it is critical to understand the genetic defects that contribute to disease initiation and progression. Although a number of breast cancer susceptibility genes have been identified, the contribution each of these genes makes to breast cancer susceptibility is currently unclear. This is partly due to limitations in current diagno ....Breast cancer affects approximately one in ten women and is therefore a major health problem. In order to improve the diagnosis, treatment and prognosis of this disease, it is critical to understand the genetic defects that contribute to disease initiation and progression. Although a number of breast cancer susceptibility genes have been identified, the contribution each of these genes makes to breast cancer susceptibility is currently unclear. This is partly due to limitations in current diagnostic processes and an incomplete understanding of all of the genetic elements for which disruption can lead to loss of gene function. This proposal aims to identify regulatory pathways that are critical for the expression of an important breast cancer gene called BRCA1. Furthermore, it aims to determine the status of these pathways in breast cancer patients, thus expanding our knowledge of the actual contribution that disruption of this gene makes to this disease. It also aims to determine the potential for trans-acting factors to regulate the expression of BRCA1 and thus activity of the BRCA1 pathway. The predicted outcome of this research is an improved ability to perform presymptomatic diagnostic testing for breast cancer and the ultimately the development of more effective drugs to treat certain breast tumours.Read moreRead less
TRACEBACK - Identification Of Women Carrying Germline BRCA1/2 Mutations Through A Retrospective Analysis Of Patients Diagnosed With High Grade Serous Ovarian Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$83,284.00
Summary
Inheriting a mutated-BRCA is associated with significant risk of developing cancer. It is a crucial diagnosis to make with proven procedures that can reduce the risk of cancer developing. Ovarian cancer (HGSOC) is the tumour most strongly associated with BRCA (15-20%) and provides a diagnostic opportunity, but despite Australian guidelines <50% receive testing. Our aim is to provide BRCA1/2 screening opportunities to patients and families and improve the rate of BRCA testing Australia wide.