Identification And Molecular Characterisation Of High-risk Premalignant Breast Lesions
Funder
National Health and Medical Research Council
Funding Amount
$560,382.00
Summary
Understanding the full repertoire of genetic events that underlie the development of breast cancer may allow development of prevention strategies. This study will analyse genetic data of benign breast lesions that may be non-obligate precursors of breast cancer. Importantly, clinical management of these lesions is difficult. A reliable method of predicting the risk of progression to cancer would be a significant advance, with benefits to individual patients and also the health system.
Kallikrein Gene Variants In Prostate Cancer: In-depth Association And Functional Studies
Funder
National Health and Medical Research Council
Funding Amount
$302,123.00
Summary
The number of men diagnosed with prostate cancer varies substantially between races, indicating a role of genetics in prostate cancer development. Recently, genetic variations in the PSA gene have been related to prostate cancer risk. I aim to elucidate the molecular mechanism of this correlation and to systematically investigate the association of other novel genetic variations in PSA and related genes with prostate cancer risk in a search of sensitive clinical biomarkers for prostate cancer di ....The number of men diagnosed with prostate cancer varies substantially between races, indicating a role of genetics in prostate cancer development. Recently, genetic variations in the PSA gene have been related to prostate cancer risk. I aim to elucidate the molecular mechanism of this correlation and to systematically investigate the association of other novel genetic variations in PSA and related genes with prostate cancer risk in a search of sensitive clinical biomarkers for prostate cancer diagnosis and prognosis.Read moreRead less
Evaluation Of Unclassified Variants Of BRCA1 And BRCA2 Using A Multifactorial Approach
Funder
National Health and Medical Research Council
Funding Amount
$456,495.00
Summary
The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that may slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of th ....The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that may slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of the sequence change. Consequently, it is not possible to offer informative genetic counselling to these women or their at-risk family members. Assessment of the potential pathogenicity and functional significance of these unclassified sequence variants will be directly useful with regard to the clinical management of these women and their families, and will develop our current understanding of how different domains of these genes contribute to their role as cancer susceptibility genes. In addition, some of our experiments to classify variants may be useful as a screening tool to identify carriers of mutations, and so prioritize them for mutation screening.Read moreRead less