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Ambitious new research program to defeat melanoma

Thursday 1st September

Melanoma Institute Australia launched an ambitious project to identify all the genetic mutations that cause the deadly cancer melanoma by fully analysing the DNA of 500 tumours in its extensive biobank.

The two-year Melanoma Genome Project will seek to identify the common gene mutations that lead to melanoma so doctors can ultimately tailor each patient’s treatment to the genetic nature of their tumours. The Melanoma Genome Project will cost $5 million and will be largely funded by private donors, who are now being sought.

Melanoma is the most common cancer among Australians aged 15 to 44 years. Each year more than 10,000 Australians are diagnosed and 1,200 die from the disease. It is often called Australia’s national cancer. 

While advances in treatment have cut mortality rates in many other cancers, melanoma remains resistant to drug therapy and the prospects for patients with advanced tumours are poor.

A national coalition of researchers from Melanoma Institute Australia, Sydney University, Westmead Millennium Institute, Royal Prince Alfred Hospital and the Queensland Institute of Medical Research will work together over the next two years to identify all the common gene mutations that cause deadly melanoma. They have confidence in the genomic approach because identification of the BRAF gene mutation in 2002 led to the development of new targeted drugs that dramatically shrink tumours in melanoma patients.

BRAF mutation is one of the genetic mutations driving melanoma growth and is found in about half of all melanoma tumours. The new targeted drugs block its activity to stop the cancer from growing.

Co-Director of Research at the Melanoma Institute Australia, Professor Graham Mann, said, “We would be astonished if this work does not, over time, translate into major extension of life for thousands of people worldwide with melanoma.

“The Melanoma Genome Project will build on Australia’s international leadership in this area to move the world’s medical knowledge closer to being able to prevent and cure melanoma.

“It will lead to new diagnostic tests and new targeted drugs which can specifically target the mutations that are causing the cancer,” he added.

The first stage of the project will seek to identify as many mutations as possible in a library of 500 melanoma tumour samples collected over the last 20 years and stored at Melanoma Institute Australia’s BioSpecimen Bank and the Queensland Institute of Medical Research.

The second stage will determine how common each of the mutations found in the first phase is and when they play their part in the growth and spread of melanomas.

Bioplatforms Australia (www.bioplatforms.com.au) is working with the Melanoma Institute and others to build national capacity and help address the melanoma challenge.

Background on gene research

The Melanoma Genome Project owes much to the 13 year, $3 billion Human Genome Project completed in 2003 where researchers from a dozen countries scanned blood samples from volunteers and pinpointed the location of nearly every piece of human DNA making up what turned out to be about 25,000 genes. The result was a map of the "human genomes" - their entire sets of DNA, genes and chromosomes that operate the body and pass on hereditary characteristics. The project was coordinated by the National Institutes of Health and the U.S. Department of Energy.

Background on melanoma

Melanoma is the most deadly of all skin cancers. One in 20 Australians has a lifetime risk of developing melanoma. It is the most common form of cancer for people aged 15 to 44. Non-melanoma skin cancers are usually referred to as basal cell carcinoma and squamous cell carcinoma. These skin cancers are most often treated with surgery because they do not normally spread to other parts of the body. Melanoma represents approximately 2% of all skin cancers in Australia however it is responsible for almost 80 per cent of skin cancer related deaths.

The link between melanoma and gene mutations

Melanomas behave as they do because the genes in their cells have become damaged. There are more than 25,000 human genes and many of them play a role in cancer if they are damaged. These mutations make cells grow, move around the body evading surgery, and resist attempts to kill them with chemotherapy and radiation treatment.

Different people’s melanomas have different patterns of gene mutation.  This explains why a melanoma that looks just the same as another to a surgeon or a pathologist might in fact be much more dangerous, and need more aggressive treatment.

Researchers need to be able to test for all the mutations that predict good and bad tumour behavior. Drugs can be designed to target the mutations.

Identifying all the mutations that drive melanoma will provide a foundation of diagnostic tests to help optimise medical care for individual patients. It will also expedite the development of the next generation of melanoma diagnostic tests and cures.

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