University of Toronto

Funded By: 

Women’s College Hospital Foundation

Status: 

Recruitment Complete

Summary:

In some populations, there are more hereditary breast/ovarian cancers than in others. This is true for the Jewish population. Both Ashkenazi and Sephardi Jews may inherit a mutation, but mutations are more common in Ashkenazis (Jews of Eastern European origin).  In order to find out just how common mutations are among the Jewish population and to determine if this population is satisfied with the genetic testing process or if there are ways that it could be improved, Dr. Kelly Metcalfe and Dr. Steven Narod are currently conducting a large study of familial cancer in Jewish women in Ontario.  This study was started in 2008 and had upwards of 2,000 participants from across Ontario. It was extended in December 2009, and over 4,000 women were subsequently recruited and participated in the second phase of this study. Jewish women between the ages of 20 and 70 years, who had not previously had genetic testing for the BRCA1/BRCA2 genes, received (at no charge) a BRCA1 and BRCA2 genetic test for an inherited predisposition to breast and ovarian cancer. Women who were found to have a BRCA1 or BRCA2 mutation received personal genetic counselling and were given individualized cancer risks and management options. Referrals were arranged for women who requested them.  Being identified as a BRCA1 or BRCA2 mutation carrier enables women to have access to additional screening (such as breast MRIs) that may not otherwise be available.

Publications: 

Metcalfe, K., Poll, A., Nanda, S., Royer, R., Llacuachaqui, M., Tulman, A., Sun, P., and Narod, S. (2010).  Satisfaction, breast cancer risk perception, and cancer-related distress in unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2Clinical Genetics.

Metcalfe, K., Poll, A., Royer, R., Llacuachaqui, M., Tulman, A., Sun, P., and Narod, S. (2009).  Screening for Founder Mutations in BRCA1 and BRCA2 in Unselected Jewish Women. Journal of Clinical Oncology,

Metcalfe, K. Mian, N., Enmore, M., Poll, A., Llacuachaqui, M., Nanda, S., Sun, P., Hughes, K., &  Narod, S., (2011).  Long-Term Follow-up of Jewish Women with a BRCA1or BRCA2 Mutation who Underwent Population Genetic ScreeningBreast Cancer Research andTreatment