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Studying mutations in rare and common tumours is focus of B.C.-based New Investigator 

Stirling_Peter_4958Cancer is a disease driven by mutations in normal DNA, and a newly funded TFRI researcher is working to better understand a type of gene mutation that affects around 40,000 Canadians with both rare and common cancers each year.

The mutations in question affect a group of proteins that form a complex called SWI/SNF, and are involved in up to 20 per cent of both rare (forme fruste) and common tumours.

“SWI/SNF mutations are becoming quite common, but how they really work is not well understood,” remarked Dr. Peter Stirling, noting he and the team he is working as a TFRI New Investigator will focus predominantly on the mutation within ovarian cancer and sarcomas. 

“We think that what we discover for the function of these genes for rare tumours will actually have an impact that benefits a lot of people.”

A scientist at the BC Cancer Agency, Dr Stirling will be building on the TFRI’s forme fruste group’s discovery that these rare tumours have mutations in a type of specific gene to better understand how they influence the behaviour of the cancer.

Currently, the belief is that SWI/SNF mutations cause cells to uncontrollably proliferate and alter cell survival pathways to encourage cancer growth. He will aim to better understand how these mutations grow and sustain cancer, and also look at potential new therapies to kill cells that contain these mutations while leaving normal cells intact.

“The more we understand what’s gone wrong, the more we can understand how to prevent it, how to treat it, and how that will influence the disease course and location,” he said, noting the team will be use cutting-edge technologies such as high-throughput genome-editing screens in their work. 

Pathologist Dr. David Huntsman leads the TFRI forme fruste team and sponsored Dr. Stirling for the award. “Dr. Stirling has had a tremendous start to his independent research career and is a brilliant, intellectually generous and extremely collaborative young scientist who brings much-needed skills and expertise to our research team,” said Dr. Huntsman (BC Cancer Agency).

“I am certain he will rapidly provide new insights and make valuable discoveries to improve the management of cancer through his work.”

While being on the forefront of scientific discoveries is rewarding for Dr. Stirling, helping people battling rare cancers is the ultimate goal. 

“The team already has made some really terrific discoveries that have helped or will help people who have these very rare, early onset cancers,” he said. “That’s a rewarding thing in its own, and if we can make a difference for a small number of people that’s still going to be a worthwhile outcome.”

Project Title: Functionalizing SWI/SNF chromatin remodeller mutations in rare and common tumours

Award: $450,000 over three years

Mentoring Program: The Terry Fox New Frontiers Program Project Grant in the Genomics of Forme Fruste Tumours: New Vistas on Cancer Biology and Management

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