Cancer may lurk in ‘normal looking’ skin

QCIF assisted a University of Queensland study that found skin with few visible freckles or blemishes may still carry sun-damaged DNA mutations that can trigger cancer. 

QCIF Bioinformatician Valentine Murigneux assisted researchers from UQ’s Frazer Institute Dermatology Research Centre in their investigation into the relationship between the number of mutations found in ‘normal looking’ skin and the number of a person’s past skin cancers. 

The resulting research, with Valentine as a co-author, was published in the journal Science Advances on 10 May 2023. 

Senior author Professor Kiarash Khosrotehrani said Valentine, who joined the project in early 2019, provided expert advice on data quality and usability from the very initial stages of the research.  

“In a multi-year partnership, we designed our studies and our sequencing strategies to take into account her advice and ultimately this facilitated the positive outcomes of our research,” said Kiarash.

As UQ is a QCIF Member, Kiarash and his team — including PhD candidate Ho Yi (Bonnie) Wong, the paper’s lead author — were able to access Valentine’s expertise via several models of engagement: 

• UQ bioinformatics clinics, subsidised by the Frazer Institute 

• UQ biostatistics clinics, subsidised by UQ’s Faculty of Medicine 

• Short consultancy contract for on-demand advice, paid by Kiarash's research project budget 

• Analysis Hotel for guidance provided at no cost by QCIF to PhD students from QCIF Members

  throughout the duration of their PhD. 

“These services provide world-class analyses of data allowing researchers to remain highly competitive even if the use of bioinformatics and statistics is not their core expertise,” said Kiarash.

Valentine said she was “very happy to see a great outcome for this work that started a few years ago.” 

“This project is a good example of the collaborative work between clinicians and researchers with different skills. It was great to see Bonnie upskill in bioinformatics during her PhD and especially working on this study,” said Valentine.

The research project’s findings show Australians can still have a high number of mutations in skin they think looks normal. 

Around two-thirds of Australians will develop a skin cancer during their lifetime, and Queensland leads the world in common skin cancers such as basal and squamous cell carcinomas. 

Kiarash said the findings explain in part why people with a single skin cancer have a much higher chance of developing others in the same area of the body in the future. 

“The findings also suggest that if we reduce mutation levels in normal looking skin then we could reduce the risk of new skin cancers,” Kiarash said. 

“We found laser treatments and dermabrasion can ‘wipe away’ skin mutations and reduce the risk of skin cancer, but this approach is not applicable to everyone.   

“Lasers and dermabrasion are difficult and expensive to implement at large scale, which is why other therapies are needed. 

“Our next step is to explore therapies that can reduce the load of skin mutations.” 

Part of this article is based on a UQ News article published on 11 May 2023.