GENETIC AND ENVIRONMENTAL DETERMINANTS OF MAMMOGRAPHIC DENSITY: A TWINS AND SISTERS STUDY
Funder
National Health and Medical Research Council
Funding Amount
$703,100.00
Summary
Breast cancer is a major cause of early death and disability in Australian women. Breast density, a characteristic of women's breast that can be mesured by mammograms such as those conducted by BreastScreen, has been shown by a number of large studies to be a major risk factor for breast cancer. It is a characteristic that cannot be measured by breast examination, but is very well measured by a breast scan. Although breast density decreases with age at and after menopause, there is a large diffe ....Breast cancer is a major cause of early death and disability in Australian women. Breast density, a characteristic of women's breast that can be mesured by mammograms such as those conducted by BreastScreen, has been shown by a number of large studies to be a major risk factor for breast cancer. It is a characteristic that cannot be measured by breast examination, but is very well measured by a breast scan. Although breast density decreases with age at and after menopause, there is a large difference in breast density across women of the same age. Identifying the reasons why women of the same age differ so much in breast density will lead to a better understanding of the causes of breast cancer and have implications for prevention. We have conducted a large twin study, in collaboration with Dr Norman Boyd in Toronto, Canada, that has shown that most of this large variation in breast density could be due to as yet undiscovered genetic factors. The genes involved are not BRCA1 and BRCA2, the currently known breast cancer susceptibility genes. We have also found that lifestyle factors, such as number of children, also influences breast density. In this larger study of twins and sister pairs, we shall test whether specific hormone genes, such as those involved with estrogen and progesterone, explain part of the genetic effects. We will also study more closely the effects of environmental and lifestyle factors on breast density, especially how their effects interact with those of any genetic factors we identify, by comparing twins and sister of the same or similar age. By studying women who have had endometriosis, we will be able to find out if their small increased risk of breast cancer is reflected in their breast density. By collecting a blood sample from all participants we will build a large resource that will be used for future genome scan studies, trying to discover new genes that influence breast density, and by implication, risk of breast cancer.Read moreRead less
Melanoma Diagnosis, And The Effect Of Screening On Depth Of Invasion Of Melanoma.
Funder
National Health and Medical Research Council
Funding Amount
$399,961.00
Summary
AIMS This study will assess how melanoma is diagnosed in Queensland, and if improvements can be made. It will assess if skin screening gives earlier diagnosis of some melanomas, and also if it leads to the diagnosis of some thin melanomas which would not progress if left alone. SIGNIFICANCE Melanoma is the most common invasive cancer in Queensland, with some 1,963 people diagnosed annually with the disease. The outlook for these patients varies dramatically with the depth of invasion of melanoma ....AIMS This study will assess how melanoma is diagnosed in Queensland, and if improvements can be made. It will assess if skin screening gives earlier diagnosis of some melanomas, and also if it leads to the diagnosis of some thin melanomas which would not progress if left alone. SIGNIFICANCE Melanoma is the most common invasive cancer in Queensland, with some 1,963 people diagnosed annually with the disease. The outlook for these patients varies dramatically with the depth of invasion of melanoma. Melanoma diagnosed and treated when very thin has an excellent long-term outcome, whereas the outcome for deeply invasive melanoma is much less favourable. Improvements to diagnosis are currently our best hope of reducing deaths and serious distress from this disease. This will be the largest study in the world of the process of diagnosis of melanoma: information on how melanoma presents, and the time between presentation and diagnosis will be compared between thin and deeply invasive melanoma. Results may indicate areas for improvement in education or health services. The use of screening, either by individuals themselves or by health professionals, has the potential to achieve early diagnosis. However, there is currently no good information on whether screening is actually effective. This study will assess the impact of self-screening and doctor screening on the depth of invasion of melanoma at presentation, and ultimately on the likelihood of dying from melanoma. The study will also assess the potential impact of screening on the over-diagnosis of lesions which while labeled as melanoma, may in fact be biologically non-progressive. This is an important issue of current concern internationally. This study will be one of only two studies in the world currently addressing this issue. This project is directly relevant to the early detection and optimum management of the most common invasive cancer in Queensland, and will have relevance internationally.Read moreRead less
Early Versus Delayed Therapeutic Venesection For The Prevention Of Hereditary Haemochromatosis
Funder
National Health and Medical Research Council
Funding Amount
$196,012.00
Summary
This study will investigate treatment by blood removal for the inherited iron overload condition hereditary haemochromatosis: Is treatment more effective in reducing risk of disease if performed early as a preventive measure rather than later after diagnosis with symptoms? Details of the lifetime history of blood donation from the Australian Red Cross Blood Service will be combined with existing information from questionnaires and clinical examination of 1,439 study participants in Melbourne.