Genomics Offering New Avenues for Breast Cancer Prevention

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Predicting inherited breast cancer risk with genomics

Jacques Simard, a professor at Université Laval's faculty of medicine and a researcher at CHUQ, is working on ways to detect breast cancer in its early stages. His approach involves using genomics to determine which population group is most at risk for the disease.

Family history a key factor in preventing breast cancer

The aim of Professor Simard’s research is to assess breast cancer susceptibility in order to identify the women who could benefit most from monitoring and prevention efforts.  Recent discoveries in genomics suggest that most cases of breast cancer cases are linked to different types of genetic variations. The genetic variations currently known explain only one-third of the hereditary component associated with excess familial risk of breast cancer. At the moment, information on family history is extremely valuable in helping to identify women with the greatest susceptibility. As Professor Simard points out, “Genetics play a pivotal role in breast cancer risk, which is why looking at family history is so important.”

In recent years, Professor Simard has been working with several international consortia that bring together research teams from five continents. His research involves conducting large-scale epidemiological assessments on the role of genetic variations in determining the risk of developing breast cancer. He is also studying how such risk may be modified by interactions with other genes and environmental and lifestyle factors. This research is helping to accelerate the integration of several types of risk factors into mathematical models used for predicting breast cancer risk.

Professor Simard is contributing to the creation of new knowledge that will make it easier for doctors to target breast cancer screening tests and help women with a higher risk make informed choices about early screening and prevention strategies.



What is a genetic variation?


Children are never an exact genetic copy of their parents. And in almost all cases, no two children born of the same parents are genetically identical to each another. Twins, who share the same genome, are the exception, since no significant genetic variations exist among them from birth.

Did you know that thanks to genetic variations received from their parents, some organisms are better adapted to their environment than others? For example, good camouflage means better chances of escaping from predators, finding food and having many descendants. These variations are the result of mutations or the combination of parental genes.

Source: The GEEE! in Genome

What is breast cancer?


Cancer is a disease caused by the uncontrolled growth of abnormal cells. Breast cancer is a malignant tumour of the mammary glands. It starts in the cells involved in the production of milk and primarily affects women. In fact, women are 200 times more likely than men to develop breast cancer. But since men also have a small amount of breast tissue, they too can get this form of cancer. Cancer cells can either remain within the breast or spread elsewhere in the body through the blood vessels or lymph vessels.

Worldwide, breast cancer is the most frequently diagnosed cancer in women, both before and after menopause.

Sources: Wikipedia, Passeport Santé, Canadian Cancer Society

Jacques Simard

“The more we learn about the genetic variations involved in breast cancer, the easier it will be for us to develop prediction models to identify at-risk women, not only at the time of diagnosis, but even sooner. With this information, we can stratify women into groups based on their individual risk and this could lead to population-based interventions specifically targeted to those with the greatest susceptibility, regardless of their age. These women could then benefit from early detection and better-targeted risk reduction strategies.”

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