Melanoma Genome Project

Melanoma Institute Australia has launched an ambitious project that seeks to change the way in which melanoma is diagnosed and treated.

The two-year Melanoma Genome Project will seek to identify the common gene mutations that cause the deadly cancer melanoma by fully analysing the DNA of 500 tumours in our extensive BioSpecimen Bank. The ultimate goal is to enable doctors to tailor each patient’s treatment to the genetic nature of their tumours.

The Melanoma Genome Project will cost $5.5 million and will be largely funded by private donors. Greg Poche has pledged $1 million towards the project. Thanks to the generosity of many supporters and extensive fundraising efforts, we have raised over $4.9 million so far. 

Over the next two years a national coalition of researchers from Melanoma Institute Australia, the University of Sydney, Westmead Millennium Institute, Royal Prince Alfred Hospital and the Queensland Institute of Medical Research will work together on the project.

Identification of genetic mutations has already led to improved treatments for melanoma patients.

The researchers 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 in Australia. The new targeted drugs block its activity to stop the cancer from growing.

The Melanoma Genome Project will build on the recent discovery that about 200,000 Australians carry a mutant gene that increases their melanoma risk.

Researchers have known that the gene MITF controls the growth of melanocytes, which make the skin turn brown after exposure to the sun. The newly discovered mutation causes MITF to work abnormally and increase the chance that sunlight or other causes will lead the melanocyte to become a malignant melanoma.

The mutant gene is more commonly found in people who have many moles and a family history of melanoma. About 4% of Australians develop melanoma sometime in their life, and the MITF mutation boosts this personal risk to about 10%.

The researchers’ findings are published in the prestigious international science journal Nature in late 2011. Read more

Translating the findings - our research, your care

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

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 at 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 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% 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.

Support the Melanoma Genome Project

Read more about our BioSpecimen Bank

Read more about the MITF gene mutation discovery