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All in the family

Tracking down genes behind highly prevalent deadly disease in N.L.

Research | Frameworks in Action

Newfoundland and Labrador has the highest incidence of familial colon cancer in the world.

Having the highest rate of all colorectal cancers in Canada, a person from Newfoundland and Labrador has a 30 per cent higher risk of contracting the disease and of dying from it than someone from Ontario.

While diet plays a role in the prevalence of colorectal cancer, the high frequency by which Newfoundlanders and Labradorians contract the disease led some researchers at Memorial, including Dr. Patrick Parfrey of the Faculty of Medicine, to believe there’s something bigger at play.

Dr. Parfrey talks about the team’s research in the video below.

International collaboration

Genes determine many of your traits such as your eye color, hair type or if you’ll have dimples. It may also play a role in whether or not you’re at risk for colon cancer. Dr. Parfrey and his team are investigating which genetic factors predisposing to this deadly disease make its occurrence so prevalent in Newfoundland and Labrador and whether that knowledge can play a role in preventing the cancer.

In collaboration with the University of Toronto and with international consortia, the multidisciplinary project has integrated input from molecular biologists, molecular geneticists, pathologists, clinical geneticists, surgeons, clinical epidemiologists, qualitative researchers, data management and health policy experts.

The project enrolled 750 consecutive incident patients from the population in the Newfoundland Familial Colorectal Cancer Registry to collect data on family history, epidemiology, diet, tumour pathology and genes.

“If you can assure people who have a big family history of colon cancer that they don’t have the gene mutation and enrol those that do in screening programs, you can significantly improve their health outcomes.” — Dr. Pat Parfrey

The work has yielded many insights that helped form the Familial Colorectal Cancer Clinic in 2010. Participants from Central and Eastern Newfoundland had their family risk assessed to recommend colonoscopy screening frequency, among other lifesaving information.

Hunt for knowledge

During the last 15 years, the project has identified that the high rate of familial cancer was not the result of a high penetrance (inherited mutations causing susceptibility to cancer) but perhaps a missing hereditability yet to be discovered.

Now with further funding, the team is preparing to develop a genetic mutation panel to hold all known mutations that cause familial colorectal cancer in the province. What started as a mission to identify the genetic cause of colon cancer has since become a hunt for the gene mutations responsible.

It’s worth noting that in addition to potentially saving lives and improving health outcomes for people around the world, the project is also providing invaluable experience for students who’ll pave the way for future genetic discoveries.

Co-investigators:
Drs. Mike Woods, Sevtap Savas, Roger Green, Jane Green, Christine Way, Peter Wang and Elizabeth Dicks, Faculty of Medicine

PhD students:
Susan Stuckless, Tyler Walsh, Geoff Warden, Angela Hyde and Elizabeth Hatfield, Faculty of Medicine

Funders:
Canadian Institutes of Health Research
Department of Health and Community Services, Government of Newfoundland and Labrador
Atlantic Canada Opportunities Agency

Partners:
Eastern Health

This article is part of a bi-weekly collection of research profiles celebrating the contributions of Memorial researchers. Be sure to check back for future profiles.


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