Principal Investigator: Dr. Marcus Bernardini
The inheritance of a
BRCA1 or
BRCA2 gene mutation increases a woman’s lifetime risk to develop both ovarian and breast cancer. Many Ontario women are not eligible for BRCA1/2 genetic testing by current Ministry of Health guidelines, despite having a family history of ovarian cancer.
The goal of the Prevent Ovarian Cancer Program (POCP) is to identify women with a first-degree relative (mother, sister, or daughter) who has died from high grade serous ovarian cancer, offer our participants a genetic test to identify
BRCA1/2 gene mutations, and provide them with the opportunity to decrease their lifetime risk for developing ovarian cancer.
We will use a variety of media outlets to direct women to
our program website. Once participants are registered and confirmed as eligible, dedicated personnel will guide all eligible participants through the genetic counselling and genetic testing process. We have secured funding to test 500 women for inherited mutations in
BRCA1/2 and emerging risk genes through panel-based sequencing. We expect to identify approximately 50 women with clinically relevant mutations in
BRCA1/2; these women will be counselled about prevention options including risk-reducing surgery. Participants
will not be required to undergo surgery as part of this program.
Background
- Ovarian cancer is the 5th most common cause of cancer deaths in Canadian women: 2,600 new cases and 1,750 deaths in 2013
- High-grade serous ovarian cancer (HGSC) is the most common and deadly type: 80-90% of women diagnosed with HGSC will die of their disease with a median survival of 4 years
- 20% of women with HGSC have an inherited
BRCA1/2 gene mutation
- Inheritance of a
BRCA1/2 gene mutation increases the lifetime risk of ovarian cancer from 2% to up to 40%
- Risk-reducing salpingo-oophorectomy (RRSO) is greater than 90% effective in reducing ovarian cancer risk in women with a
BRCA1/2 gene mutation
Rationale
- There are many women living in Ontario who are unaware that they have an inherited risk to develop ovarian cancer
- The province of Ontario offers
BRCA1/2 genetic testing to individuals with serous ovarian cancer and to unaffected relatives when a strong family history of ovarian/breast cancer and/or when a known
BRCA1/2 gene mutation is identified in a family member
- In many cases, women with high-grade serous ovarian cancer (HGSC) have died before a genetic test is performed and their mutation status remains unknown to first-degree relative(s).
- We estimate that there are over 10,000 women in Ontario whose first-degree relative had an ovarian cancer and genetic testing was not completed. These women are potentially at higher risk of developing HGSC.
Participant Eligibility Criteria
Women (aged 18+) living in Ontario who have a deceased first-degree relative (mother, daughter, sister) diagnosed with HGSC. Participants must provide and/or complete:
- Permission to access pathology report for deceased first-degree relative with ovarian cancer
- Family history questionnaire
- Pre/post-genetic counselling
- Blood sample for genetic testing
- Psychosocial questionnaires
Program Objectives & Impact
- Identify women with inherited
BRCA1/2 gene mutations who would otherwise not be identified under current provincial criteria
- Identify new risk genes that may affect a woman’s likelihood of developing ovarian cancer
- Assess the psychological barriers and impact of genetic counselling and identify new models of genetic
Personal stories
Who We Are
Gynecologic Oncologists
- Marcus Bernardini, MD *
- Sarah Ferguson, MD
- Joan Murphy, MD *
- Barry Rosen, MD *
- Stephane Laframboise, MD
- Taymaa May, MD
- Jason Dodge, MD
Medical Oncology and Haematology
Gynecologic Pathologist
Genetic Counsellors, Familial Breast & Ovarian Cancer Clinic
- Jeanna McCuaig, (C)CGC *
- Susan Armel, CGC
- Rochelle Demsky, CGC
- Alexandra Volenik, (C)CGC
- Terri Stuart-McEwan, MHS, BScN *
Scientific Associate
- Alicia Tone, PhD * (TOCP Program Manager)
Clinical Research Assistant
Clinical Geneticists
- Suzanne Kamel-Reid, PhD *
- Tracy Stockley, PhD *
Psychosocial Oncology
- Gary Rodin, MD *
- Jennifer Schuldiner
Communications
Web and Informatics
- Carl Virtanen, MSc *
- Natalie Stickle, MSc
- Qun Jin, MSc
- Zhibin Lu, MSc
- Abdellatif Daghrach
- Long Dam
- Chip Campbell
- Greg Clarke
- Le Huynh (U Waterloo Co-op student)
- Cong He (U Waterloo Co-op student)
- Tessa Alexanian (U Waterloo Co-op student)
- Visaahan Anandarajah (U Waterloo Co-op student)
Laboratory Medicine Program
Strategy Support
- Jessica Wise Blackman *
- Caitlin Doherty
Supporting Partner
* indicates members of our Project Executive Committee
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