Researchers at the University of British Columbia have linked an inherited gene mutation to an aggressive form of prostate cancer, possibly paving the way for new genetic testing that could save lives.
After analyzing the genetic data for 4,500 prostate cancer patients, they found an inherited mutation in a gene dubbed CDK12 in five unrelated men, all of whom had developed an aggressive form of the disease between the ages of 44 and 62.
The research team then examined tumour samples for a distinctive genetic fingerprint left behind when CDK12 stops working to confirm the inherited mutation caused the cancer.
“The tumours provided us with a genetic signature that pointed directly back to CDK12,” UBC postdoctoral fellow and lead author Sofie Tolmeijer said in a news release. “It gave us compelling evidence that these inherited mutations were playing a direct role in causing their cancer.”
The study was a collaboration between researchers at UBC, BC Cancer, the Vancouver Coastal Health Research Institute, the University of Washington, and institutions in Australia, the Netherlands, Spain and Belgium.
Researchers would like to use the information to add CDK12 to standard genetic testing panels for hereditary prostate cancer, hoping this will provide a means of early detection for a type of the disease that attacks people at a young age.
“The opportunity now is to identify these families earlier and give people the chance to benefit from enhanced screening, when there are still curative treatment options,” said UBC urology Prof. Alexander Wyatt, another senior study author, in the news release.
Testing for this mutation could also be added to ovarian cancer screenings. Researchers found that several of the people with the CDK12 mutation had a family history of ovarian cancer, and they identified an additional person with ovarian cancer who also carried the mutation.
“With the right genetic testing and screening programs, we envision a future where no one who inherits one of these mutations dies from cancer,” Wyatt said.