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.
Germline Mutations Identified In Melanoma-prone Kindreds Can Impair The Function Of The P14ARF Tumour Suppressor
Funder
National Health and Medical Research Council
Funding Amount
$257,036.00
Summary
Approximately 10% of people in Australia are at high risk of developing melanoma because they carry a faulty gene. Many of these melanoma-prone individuals carry a single mutation that can disrupt two genes, p16INK4a and p14ARF. These genes are both involved in regulating the growth of cells via different pathways. The role of p16INK4a in cancer development is well established and the many functions of this gene are under intense investigation. In contrast, the role of p14ARF in melanoma progres ....Approximately 10% of people in Australia are at high risk of developing melanoma because they carry a faulty gene. Many of these melanoma-prone individuals carry a single mutation that can disrupt two genes, p16INK4a and p14ARF. These genes are both involved in regulating the growth of cells via different pathways. The role of p16INK4a in cancer development is well established and the many functions of this gene are under intense investigation. In contrast, the role of p14ARF in melanoma progression has not been studied. We will be analysing in detail how faulty p14ARF promotes uncontrolled cell growth and cancer development. Our research, will dissect the functions of p14ARF and determine whether p14ARF and p16INK4a co-operate in maintaining normal cell growth. This work is essential to our understanding of melanoma development and will provide clinically useful information regarding the biology of human cancer.Read moreRead less
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
P14ARF Induces P53-independent Growth Arrest By Modulating The Activities Of The E4F And E2F Transcription Factors
Funder
National Health and Medical Research Council
Funding Amount
$235,500.00
Summary
Cutaneous malignant melanoma is an important public health problem, affecting 1 in 30 Australians at some time in their lives, and the incidence of this disaese is increasing rapidly. Approximately 10% of people in Australia are at high risk of developing melanoma because they carry a faulty gene. Many of these melanoma-prone individuals carry a single mutation that can disrupt two genes, p16INK4a and p14ARF, that are involved in regulating the growth of cells via different pathways. The role of ....Cutaneous malignant melanoma is an important public health problem, affecting 1 in 30 Australians at some time in their lives, and the incidence of this disaese is increasing rapidly. Approximately 10% of people in Australia are at high risk of developing melanoma because they carry a faulty gene. Many of these melanoma-prone individuals carry a single mutation that can disrupt two genes, p16INK4a and p14ARF, that are involved in regulating the growth of cells via different pathways. The role of p16INK4a in maintaining cell cycle control is well understood and the many functions of this gene are under intense investigation. In contrast, the functions of p14ARF in normal cell regulation are not well understood. We will be analysing in detail how p14ARF protects the cell from uncontrolled growth and inhibits cancer development. Our research will dissect the functions of p14ARF and determine the protein partners that co-operate with p14ARF in maintaining normal cell growth. This work is essential to our understanding of normal cell proliferation and melanoma development and will provide clinically useful information regarding the biology of human cancer.Read moreRead less