Young Onset Colorectal Cancer: Genetics Pathology And Environment
Funder
National Health and Medical Research Council
Funding Amount
$439,180.00
Summary
There has been a steady increase since 2002, in the age-standardised incidence of CRC in males under 45 years in Australia, contrasting with the stabilisation in incidence of CRC in males of age 45 years and over. Persons under 50 years are not routinely screened unless they have a significant family history of CRC. Young-onset rectal cancer is associated with late presentations and with a higher mortality. This proposal will address the possible risk factors for young-onset CRC.
New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
A/Prof Thomas' Senior Research Fellowship will provide support for the continued development of a broad-based, national and international research program focused on the biology and clinical aspects of connective tissue tumours. A/Prof Thomas' career goals are to continue work in basic, translational and clinical research into these tumours which include osteosarcoma, liposarcoma, giant cell tumour of bone and the inherited risk of development of these neoplasms.
The three interlocking aims of this fellowship are to address the contribution of specific genes to melanoma development in: (i) families (ii) the general population (iii) tumour progression. The findings will be used to develop better models to predict which individuals in the population are at greatest risk of melanoma and to identify molecular targets for the design of new therapies to treat this disease.
Identification Of Novel Familial Patterns And Genotypes Associated With Inherited Risk In Adult-onset Sarcoma: The International Sarcoma Kindred Study
Funder
National Health and Medical Research Council
Funding Amount
$552,855.00
Summary
Inherited genetic risk is important in cancers that affect the young. The International Sarcoma Kindred Study (ISKS) is the world's first prospective study aiming to better understand how sarcomas can be inherited in families, and the genes that cause sarcomas. The ISKS is a multinational study led from Australia, with partners in the US, Europe and India, and aims to recruit over 3000 families affected by sarcoma.
A Worldwide Study Of Cancer Risk For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$710,761.00
Summary
People with the genetic Lynch syndrome are more likely to get cancer but we cannot accurately predict who will get cancer and when. Doctors need this information to improve cancer prevention. Large collaborative studies are needed for this research. We have agreement from the 115 researchers to combine, into a single resource, 8,863 family trees of Lynch syndrome. We will analyse this data to determine the risk of cancer and whether it differs by sex, age, or nationality.
Using Twin And Family Studies To Make Genomics Relevant To Population Health
Funder
National Health and Medical Research Council
Funding Amount
$876,005.00
Summary
This Fellowship will make major impacts on health by building on decades of research creating large studies of families, and in particular twins. One aim is to produce a simple web-based tool for women to accurately know their risk of breast cancer based on family history, mammography and genetic markers. This could transform breast and genetic screening across the world. Another is to develop new ways of analysing twin data which resolve which risk factors are causal and relevant to prevention.
Identification Of Novel Colorectal Cancer Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$358,093.00
Summary
Colon cancer is one of the most common cancers, with around 1 million cases diagnosed annually. These cancers can be caused by a combination of lifestyle/environmental and genetic factors. Genetics cause ~30% of colon cancers, although the cause is unexplained in ~2/3 of these cases. The aim of this project is to discover new colon cancer genes by extensive gene sequencing of multi-case unexplained colon cancer families, and screening of additional cases and cancer-free individuals.
Genomic Profiling For The Prevention Of Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Bowel cancer is a major health issue but is also a preventable disease. Identifying who has a high risk of developing bowel cancer from someone who has a low risk is an important way to ensure preventative medical treatment is targeted to those who are at the highest risk and will ultimately save lives. I will utilise different genomic profiling approaches to identify risk factors for bowel cancer so that they can be used to identify high risk people in the population.
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.