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Getting tested for BRCA genetic mutation saves lives: U of T expert

Angelina Jolie in New York last month: The actress made headlines when she announced that she had a double mastectomy as a preventative measure (photo by Gotham/Getty Images)

We all remember when the actress Angelina Jolie announced she had a double mastectomy, a preventative measure after learning she had the BRCA-1 genetic mutation (she later had her ovaries removed as well). Jolie got herself tested after her mother died of ovarian cancer. 

Taking preventative measures could very well have saved Jolie’s life, says Dr. Mohammad R. Akbari, an assistant professor at University of Toronto’s Dalla Lana School of Public Health and the Institute of Medical Sciences in U of T’s Faculty of Medicine.

Anyone with a family member who has been diagnosed with four major cancers – breast, ovarian, prostate or pancreatic – should consider getting a simple saliva test to determine if you have the genetic mutations BRCA-1 or BRCA-2, writes Akbari in this week’s edition of Doctors’ Notes, the Toronto Star’s weekly column created by medical experts from the University of Toronto.

Akbari, who is also a scientist at the Women’s College Research Institute, cites the dangers of being BRCA positive – a lifetime risk of developing breast cancer of 80 per cent; 40 per cent for ovarian cancer, 35 to 40 per cent for prostate cancer,  and about 7 per cent for pancreatic cancer.

There is an advantage to knowing you have the mutation, he writes: With all four cancers, there are preventative measures you can take, and knowing you’re at risk can help you catch it as early as possible. A BRCA diagnosis also helps to customize cancer treatments.

Women’s College Hospital has developed The Screen Project, where participants pay US$165 to receive a simple saliva collection kit by mail. If you are found to have the  BRCA mutation, a genetic counsellor will meet with you to discuss next steps.

“As a genetic researcher, I know how scary it can be to undergo this kind of testing. Many people don’t want to live their lives in fear; if they’re at higher risk of cancer, they’d rather not know,”  Akbari writes. “But if there’s breast, ovarian, prostate or pancreatic cancer in your family, you likely already live with the fear of getting these diseases.”

Read this week's Doctors' Notes in the Toronto Star