Researcher discovers genetic variations that are linked to breast cancer

Mar 28 2013

Working with an international consortium conducting research on breast, ovarian and prostate cancer among 200,000 people, Professor Jacques Simard, holder of the Canada Research Chair in Oncogenetics at Laval University, was actively involved in the discovery of DNA "spelling mistakes" linked to breast cancer. These mistakes - known as genetic variations - are directly involved in the risk of developing breast cancer.

The research was part of an international study on an unprecedented scale performed by the largest international consortia, the Collaborative Oncological Gene-Environment Study (COGS), coordinated by Professor Douglast Easton of Cambridge University. Given the scope of this international study and the impact of its findings, it will be featured in a series of articles in the prestigious science journal Nature Genetics on March 27, 2013. The results will also be presented in three additional articles published simultaneously in PLoS Genetics and The American Journal of Human Genetics.

Giant leap forward in breast cancer research

For over 20 years now, Professor Simard has been working at the CHU Qu-bec Research Centre on genetic susceptibility to breast cancer. These latest research findings helped identify 49 new genetic variations involved in the risk of developing this disease, almost tripling the number of variations now known. In the vast majority of breast cancer cases affecting the general population, it is the interaction between these genetic variations and other environmental and lifestyle factors that is involved in the development of the disease.

Professor Simard explains: "The vast amount of genetic information gathered through this study makes it one of the most significant breakthroughs in recent years in terms of understanding the inherited risk factors of breast cancer. It is now possible to develop a DNA profile where 5 percent of women have one in four chances of developing the disease." By understanding the genetic causes and their interaction with environmental factors, Professor Simard is paving the way for better prediction of breast cancer risk.

Qu-bec technological expertise at the heart of this achievement

Half of the samples used in the study - over 100,000 - were analyzed in Montr-al by genomic experts working at the McGill University and G-nome Qu-bec Innovation Centre.

G-nome Qu-bec President and CEO, Marc LePage, notes: "It was Professor Simard's leadership that secured the involvement in the project of the McGill University and G-nome Qu-bec Innovation Centre. He positioned the Centre's expertise and attracted many international teams, who could have had their findings analyzed anywhere in the world. This is unequivocal proof that we have built a genomic infrastructure of international repute. We are proud of our role in this worldwide study and applaud the work of all the researchers who participated, including Professor Mark Goldberg of the Research Institute of the McGill University Health Centre, who spearheaded the portion of the study on the interaction between genetic and environmental factors and its impact on the risk of developing breast cancer."

The $1.5 million investment by the Quebec Breast Cancer Foundation played a key role in enabling Qu-bec researchers to take part in the international consortium. Francine Cl-roux, Executive Director of the Foundation, explains: "It is a major scientific breakthrough in breast cancer research and we are thrilled with the news. This discovery will make it easier to identify those women most at risk for the disease and offer them early screening and targeted prevention approaches."

Source: G�nome Qu�bec