Melanoma and Other Skin Cancers

The impact of our research

Could octopus venom help slow melanoma growth? Can we pinpoint the exact genes that predispose someone to skin cancer? Is it possible for personalised medicine to improve treatments for melanoma patients?

These are just some of the questions our QIMR Berghofer researchers are tackling as they research melanoma – a challenge that’s especially close to home, with Queenslanders having the highest rates of melanoma in the world.

QSkin, the largest research study ever conducted on skin cancer, involves more than 45,000 Australians.

Our researchers have identified a dramatic rise in ‘pre-cancerous’ melanomas being treated in Australia. They’ve also found strong evidence that similar trends are emerging across the globe.

A compound in the venom of an Australian octopus could significantly slow cancer growth and help fight drug resistance in patients with one of the most serious forms of melanoma. We’ve found promising early evidence of this, in collaboration with our international partners.

We’ve identified two new gene faults that dramatically increase the risk of melanoma.

About melanoma and other skin cancers

What is melanoma?

Melanoma is a type of skin cancer that occurs in the cells that give skin its colour (melanocytes). Melanomas appear as moles or freckles that change colour, size, or shape. More rarely, they can present as non-healing sores.

Even though they’re less common than other types of skin cancer, melanomas are far more dangerous. The earlier melanoma is diagnosed and treated, the better the chance of preventing it from spreading throughout the body and causing serious illness or death.

Melanoma of the skin is largely preventable. An estimated 65% of melanomas in Australia can be attributed to the high levels of ambient ultraviolet (UV) radiation in our sunlight, so at least 10–15% of melanomas can be prevented by taking sun protection measures – using sunscreen, wearing a hat, seeking shade, and wearing sun-protective clothing.

Melanomas can develop in other parts of the body, such as ocular melanoma which develops in the eye, or mucosal melanoma which occurs in the tissues that line the nose, mouth, oesophagus, and anus. These are not caused by ultraviolet light exposure. Unfortunately, we don’t know what causes these melanomas to develop or how to prevent them.

Who’s most at risk of melanoma?

Australia and New Zealand have the highest rates of melanoma in the world, with Queensland the highest of all.

Worldwide, melanoma is the third most common cancer – after prostate and colorectal cancer for men, and breast and colorectal cancer for women.

What causes melanoma?

Melanoma risk increases with exposure to UV radiation. This includes exposure to the sun and other sources like solariums (tanning beds).

Having sunburn, especially during childhood, is another important factor. So, it's essential to protect your skin from the sun's rays and avoid getting sunburnt.

You’re more at risk if you have:

more than 50 moles (naevi) on your body, or more than 10 above the elbows on your arms
unusual moles (dysplastic naevi)
a weakened immune system
a family member with melanoma (like your mum, dad, or sibling)
fair skin, freckles, light eye colour (blue or green), or light/red air. People with these features tend to burn more easily than tan.

What are the symptoms of melanoma?

It’s possible for melanoma to have no symptoms. However, the first sign is often a new spot appearing or a change to an existing mole, such as:

• changing colour

• becoming blotchy

• appearing to get bigger

• having an irregular shape

• not being symmetrical

• increasing in height

• developing a raised area

• itching or bleeding.

New moles and spots appear and change during childhood, adolescence, and pregnancy. This is normal. But if you develop new spots or moles as an adult, you should have them examined by a doctor.

How is melanoma treated?

In the past 10 years, major improvements in treatment have helped people with advanced melanoma live longer. Despite these improvements, melanoma can be fatal, even in younger people.

Two important treatments are mutation-targeted therapy, and a type of immunotherapy called immune checkpoint inhibitors. These have increased the chances of survival for patients with advanced melanoma. However, despite these advances in treatments, patients with advanced or metastatic melanoma still face significant risk of death.

Melanoma is an aggressive cancer. This means that prevention, early detection, and early treatment are vital. Medical research needs to focus on these areas, as well as finding more affordable and effective treatments.

Facts about melanoma and other skin cancers

12,000+

cases of melanoma diagnosed in Australia each year.

Men

are more likely to get melanoma than women.

1,800+

Australians die from the disease each year.

Our melanoma and other skin cancers research

Cancer Aetiology and Prevention

Led by Professor Rachel Neale, this lab focuses on understanding the health benefits of vitamin D supplementation, balancing the risks and benefits of sun exposure, and reducing the impact of melanoma.

"Nearly half of all Queensland adults and children are still getting sunburnt every year. Only 1 in 5 adults uses sun protection strategies when outside in summer, and not enough sunscreen is used when it is applied. We need to change the narrative around sun protection so it becomes the norm to wear a broad-brimmed hat outdoors and to put on sunscreen every day before we leave the house."

Professor Rachel Neale

Statistical Genetics

This lab, led by Professor Stuart MacGregor, studies the role that genetic variation plays in determining a person's risk of melanoma and keratinocyte cancers.

The laboratory develops and applies statistical genetic methods to gene mapping studies across a wide range of traits and diseases. Major focus areas include the genetics of melanoma and keratinocyte cancer, and of ophthalmological disorders.

“We’re trying to better understand why some people are affected by cancer or why they respond poorly to cancer treatment.”

Professor Stuart MacGregor

Medical Genomics

Led by Dr Nic Waddell, this lab uses next-generation genetic sequencing to understand how melanomas develop and how our immune system responds. Their aim is to shorten the pathway to ‘personalised medicine’ to improve the diagnosis, management, and treatment of melanoma patients.

“Using next-generation sequencing, our research is decoding the unique genomic signatures of individual patients, to unlock the key to personalised medicine. This approach holds the potential to revolutionise treatment strategies, offering tailored interventions that address the unique molecular characteristics of each individual's cancer.”

Dr Nic Waddell

Oncogenomics

This lab, led by Professor Nicholas Hayward, focuses on the molecular genetics of melanoma. The team is aiming to identify cancer genes, and how genetic defects influence cancer behaviour and development.

“If we can better understand the genetic events that lead to cancer developing, we may find better ways to diagnose or treat those cancers.”

Professor Nicholas Hayward

Functional Cancer Genomics

This lab, led by Associate Professor Stacey Edwards, focuses on understanding how DNA variation contributes to cancer risk and development. The laboratory is particularly interested in translating the findings from cancer genome-wide association studies (GWAS).

“By integrating genetics, chromatin and transcriptome profiling, computational genomics and molecular studies, we aim to unravel the complexity of cancer development. These discoveries are accelerating progress from genetic studies to biological knowledge that may ultimately guide preventative and therapeutic measures.”