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Patricia Tonin, Ph. D.

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Patricia Tonin, Ph. D.
Patricia Tonin, Ph. D. Professor Department of Medicine, Division of Medical Genetics, Faculty of Medicine, McGill University

Bio

Her research focuses on studying the genes that, when inherited, increase the risk of developing ovarian or breast cancer. Over 20 years ago, two such genes, BRCA1 and BRCA2, were discovered through a collaborative effort. Genetic tests are now available to identify women at risk for these cancers so that cancer management and prevention strategies can be offered to them. While these genes are responsible for a large number of hereditary cancers, there is evidence that other genes are also responsible for hereditary cancer. By researching cancer families new genes are being identified and the role they play in hereditary ovarian cancer is being established. Using tumour samples and cell line models, our lab also studies how genes are disrupted in ovarian cancer development. State-of-the art technologies are used to study hundreds of genes at once. The long-term goal would then be to identify the genes on which to base the development of new therapies or the use of existing therapies to treat patients affected by ovarian cancer.

Why Choosing Breast Cancer?

Her research interests focus on the etiology of breast cancer and the genetic risk factors. She is particularly interested in the role played by genes that significantly increase the risk of breast cancer when transmitted in their mutant form. More specifically, she is interested in the role of genes such as BRCA1 and BRCA2 and how they increase the risk of breast cancer and associated cancers such as ovarian cancer.

A Scientific Accomplishment You Are Proud of

I am very proud of my role in the discovery of the BRCA1 and BRCA2 cancer susceptibility genes early in my scientific career. I am also proud of the work carried out by my team to establish how the BRCA1 and BRCA2 contribute to the development of hereditary cancers among French-Canadian women at risk. This work led to the development of specific testing to identify carriers of the mutation and to offer them appropriate prevention or screening strategies.

Research Focus

  • Etiology (causes)

Distinctions

1995 Canadian Breast Cancer Foundation Award in recognition of the Discovery of BRCA1 cancer susceptibility gene

2004 - Merck Frosst Award for excellence in research, Department of Medicine, Faculty of Medicine, McGill University

Projects Funded by the Foundation

2012 – The implications of double heterozygotes for BRCA1 and BRCA2 mutations in French Canadian cancer families