New genetic research could help detect breast cancer earlier

Click to play video: 'Breast cancer discovery could prevent positive diagnoses'
Breast cancer discovery could prevent positive diagnoses
WATCH: A new genetic discovery could help prevent positive diagnoses of breast cancer in “high risk” women. As Global's Raquel Fletcher reports, one of the researchers, Quebec doctor Jacques Simard, was part of a team that discovered the gene that led to Angelina Jolie’s double mastectomy – Nov 20, 2017

A team of world researchers, including a professor at Laval University, has discovered genetic mutations that could lead to breast cancer.

In Canada, approximately 5000 women die of breast cancer each year. This Quebec scientist is trying to change that with better early detection.

Dr. Jacques Simard has had a long career in genetics. He was also part of the research team who discovered the BRCA 1 and BRCA 2 cancer genes over twenty years ago.

READ MORE: Breast cancer and genetics: Angelina Jolie’s double mastectomy

“This has been in the media, through the information of Angelina Jolie, who is a carrier of the gene mutation, BRCA 1,” Dr. Simard said.

Jolie underwent a double mastectomy to remove both breasts. She wrote about her decision in a much-publicized op-ed in the New York Times.

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BRCA 1 is relatively rare and usually hereditary. Scientists have been searching for other, more common genetic mutations that may increase a woman’s risk of developing breast cancer.

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READ MORE: Reality check: Is mastectomy better for young women with early-stage breast cancer?

“What we’re interested now it’s to have a genetic test to identify women at higher risk in the general population that don’t have any family history,” Dr. Simard said.

Last month, a group of researchers from around the world, including Dr. Simard, released the results of a three-year experiment involving the DNA from 275,000 women. They discovered another 72 genetic markers.

“This in total, we have now 180 markers,” he said.

Currently, breast cancer screening only begins for women at age 50, but Dr. Simard says one in six cases will be diagnosed in younger women.

He said we’re overscreening women with low risk and underscreening women with high risk.

READ MORE: Could a ‘smart T-shirt’ save your life? Université Laval technology monitors breathing

“What we would like to establish is a personalized risk-assessment,” Dr. Simard said. “To perform a risk-based approach, as opposed to a one-size-fits-all, currently, based mainly on age, this is our goal.

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Dr. Simard said doing screening based on a woman’s genetic predisposition could allow doctors to detect breast cancer earlier. The survival rate of Stage 1 breast cancer is 98 per cent.

LISTEN: A new study out of the American Cancer Society says half of cancers could be preventable. Newstalk 770’s Rob Breakenridge connects with Kim Miller, epidemiologist with the American Cancer Society.

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