Family link explored

Queensland scientists lead world’s largest study into genetic risk of skin cancer.

Several generations of Rachael Hazell’s family have experienced skin cancer, but the world’s largest study of the disease could offer hope for her family.  

Scientists from QIMR Berghofer Medical Research Institute’s QSkin Genetics study are analysing the DNA of tens of thousands of Queenslanders to determine the role genes play in developing skin cancer.

Ms Hazell is one of many Australians who have a genetically higher risk of developing skin cancer.

“We have a sad family history of malignant melanoma,” Ms Hazell said.

“My family has dysplastic naevus syndrome which is genetically inherited and makes us more susceptible to skin cancer.

“I was diagnosed with melanoma last year, both my grandfather and uncle died from the disease and the list of family who have had non-melanoma skin cancers or other high-risk spots is quite long.”

QSkin Genetics principal researcher and QIMR Berghofer Deputy Director, Professor David Whiteman, said the current phase of the large cohort study, which was established in 2010, would identify genetic risk factors that could benefit families like Ms Hazell’s.

“We’re analysing the DNA to work out which genes increase your risk of skin cancer and how they influence things like survival rates,” Prof. Whiteman said.

“We have already analysed genetic information from more than 18,000 of those original study participants, but in the next phase of the research we want to supercharge that effort and include more Australians in the research.

“We have a really rich dataset that has no parallel anywhere else in the world.”

Prof. Whiteman said the study had already identified several genes that increase a person’s risk of developing the disease.

“Some of the genes we already knew, such as those associated with red hair and freckles, have come up very strongly for skin cancer,” he said.

“Then there’s a whole bunch of other genes that we don’t know exactly what they do, but we now know that they increase your risk of skin cancer.

“We think some of them could influence how your immune system recognises and kills cancer cells as we’ve seen some people appear to have a better ability to do that than others.


“Some of the genes appear to be related to how well your body can repair DNA damage from the sun’s UV radiation, so part of our research now is to find out how these genes work and how they affect your risk of skin cancer.

“Ultimately we hope that this information will lead to a new treatment or way of preventing skin cancer.”

Ms Hazell said knowing her genetic risk influenced her approach to sun safety.

“It’s made me realise that education and awareness are important so if I have kids they will know their family history, get their skin checked regularly and learn what to keep an eye out for,” she said.

The long-term nature of the QSkin Genetics study has enabled the de-identified data originally used for skin cancer research to assist in other studies around the world.

“One thing I’ve learned in epidemiology is that these big studies become more valuable over time,” Prof. Whiteman said.

“We were very fortunate that the people who took part in the first phase of the study gave us permission to follow them up for other health events so we’ve got experts from other parts of the world looking at things like eating disorders and anorexia, which aren’t well studied, and we’ve asked our participants about their experience during the COVID-19 pandemic.

“This will be really valuable information that will help inform public health policies into the future and shows, yet again, how medical research really delivers value to the community in so many ways.” 

Australia has the highest rate of skin cancer in the world with more than 400,000 people treated each year for all forms of skin cancer, including melanoma, squamous cell carcinoma and basal cell carcinoma.