A Study of Familial Breast Cancer in BRCA Mutation-Negative Families

Recently, investigators at Women’s College Research Institute reported that women with a strong family history* of breast cancer, but no BRCA1 or BRCA2 mutation, are two to four times more likely to develop breast cancer than women without a family history. Despite this elevated risk, no clinical guidelines have been developed for the care of these women. The purpose of this study is to evaluate factors which may influence their risk.

*Strong Family History is defined as having:

three breast cancers at any age on one side of the family (mother or father, not both)
two breast cancers diagnosed under the age of 50 within first and second degree relatives (i.e. mother, sister, daughter).

Click here to view the Investigators Brochure.

Approximately 15 per cent of women with a diagnosis of breast cancer have a family history of breast cancer. Within this 15 per cent, approximately one out of four carry a mutation in one of the two known breast cancer genes, BRCA1 and BRCA2. This means that the majority of women that qualify for genetic testing receive uninformative results, despite their significant family history of breast cancer. There is currently little information available to inform these women and their physicians about screening and prevention practices. Our goal is to better understand the influence of family history on the risk of developing breast cancer.

We hope to better understand the interaction between various factors that may be associated with the risk of developing breast cancer in women with a strong family history but no BRCA mutation. The identification of risk factors that may influence breast cancer may lead to the development of prevention, counseling, and treatment strategies specifically for this population of high-risk women. The more women who enroll in this study, the more accurate the results will be. These results translate into the ability to make better decisions about your health.

Participation entails completing a consent form, medical release form, and a research questionnaire that asks about diet, lifestyle and other health-related factors. A similar, but shorter, questionnaire will be completed every two years, over a 10 year period. We estimate that the questionnaire should take about 30 minutes to complete. There is also an optional fasting blood and urine sample that can be taken at the Familial Breast Cancer Research Unit. The visit is estimated to take about 15 minutes.

You can help us find some answers that will guide your family and others.

It is our hope that the information gained from this study will improve breast cancer prevention strategies and care received by you and women in your situation in the future.

Participation in this study is completely voluntary. Only women who fulfill all the following criteria may participate:

  • Women who are 18-65 years of age.
  • No personal history of cancer.
  • Reside in Canada.
  • Have 2 or more female relatives with breast cancer under the age of 50 OR 3 breast cancers at any age from only ONE side of the family (mother or father, not both).
  • Have at least one first degree relative with breast cancer (i.e., mother, sister, daughter).
  • Have at least one relative with breast cancer receive a negative result for a BRCA1 or BRCA2 mutation.

In order to be eligible, either you or one of your first/second degree relatives with breast cancer must have received a negative result for BRCA1 or BRCA2 mutation.

Ready to help future generations of individuals faced with a familial breast cancer history?

You can sign up to receive a study package on this website.

Please send us an email with the subject “Negative Study” to negative.study@wchospital.ca.

If you wish to speak with a study team member, you may call us at 416-351-3800 ext 2875.

You may also direct any questions to:

Principal Investigator,
Dr. Joanne Kotsopoulos
Familial Breast Cancer Research Unit
Women’s College Research Institute
76 Grenville Street, Room 6423, Toronto, ON M5S 1B1