Patricia Tonin, Ph.D.

I study the role of hereditary and somatic genetic factors in high-grade serous ovarian carcinomas. Research programs involve the characterization of genes in the germline of women with the hereditary form of ovarian cancer or in cancer specimens. The study of genetic events has improved our understanding of the biology ovarian cancer as well as provided biomarkers for clinical management. A successful example of this approach has been the contribution to the discoveries BRCA1 and BRCA2, and their application (genetic testing) to the health care management of women at high risk for inherited predisposition to breast and ovarian cancers.

Major themes of study include the following areas of research:

• Investigating the contribution of known cancer susceptibility genes, such as BRCA1 and BRCA2, in hereditary cancer families that feature ovarian and breast cancers, particularly in the French Canadian population of Quebec.
• Investigating the significance of specific somatic molecular genetic events occurring in ovarian cancer cells using various established techniques (mutation screening, loss of heterozygosity analyses, gene expression microarray analyses) and high throughput genotyping technologies (whole genome SNP array, exome sequencing) available through the McGill University and Genome Quebec Innovation Centre.
• Molecular genetic characterization of a uniquely developed ovarian cancer cell line model, which was rendered non-tumorigenic as a consequence of transfer or normal genes in order to identify molecular pathways important in high-grade serous ovarian carcinomas.