In recognition of Breast Cancer Awareness Month 2024, we are highlighting a variety of initiatives at Women’s College Hospital and beyond, aimed at raising awareness and offering comprehensive information on breast cancer prevention, treatment and aftercare.
The idea that certain cancers run in families goes back a long way, long before we fully understood how genes and DNA work. Over decades, and as evidence to support the theory of hereditary breast cancer grew, it became clear that a faulty gene lay at the centre of the quest for answers. The race was on to find it.
In October 1994, a team of scientists published a paper in the journal Science revealing the identity and location of the gene now known as BRCA1. From there, a further breakthrough came in 1995 with the discovery of the BRCA2 gene.
“The discovery of the BRCA genes gave us more clarity about the nature of breast cancer itself,” says Dr. Steven Narod, senior scientist at Women’s College Hospital Research and Innovation Institute and one of the scientists who contributed to the discovery. “Since then, there has been a lot of work put into pinpointing the risks of carrying a mutation in a BRCA gene and in developing strategies for cancer prevention and treatment.”
Research suggests that around 70 per cent of women with a faulty BRCA1 or BRCA2 gene will develop breast cancer by the age of 80. Almost 45 per cent of people with a faulty BRCA1 gene will develop ovarian cancer by the age of 80 and 20 per cent for those with a faulty BRCA2 gene.
Cancer Prevention and Treatment
Thanks to the discovery of these genes 30 year ago, those at a high-risk of developing breast and/or ovarian cancer can now be offered genetic testing, a powerful tool used to detect mutations in genes known to increase cancer risk. Knowledge of a mutation can help inform people of their options for managing their risk, such as increased cancer screening or preventative surgery.
It’s estimated that thousands, if not millions, of people worldwide have received genetic testing for cancer susceptibility genes in the past three decades.
In Ontario, genetic testing is available to high-risk individuals based on personal and family history – the full criteria is available on Cancer Care Ontario. However, there are calls for an expansion of the eligibility criteria and move towards population-based testing.
The Screen Project, a Canada-wide study led by the Familial Breast Cancer Research Unit at Women’s College Hospital is one such initiative looking to break down barriers to testing and reach those who may not be considered high-risk.
When it comes to treatment, “it’s important to personalize it for each woman, knowing their BRCA mutation and family history,” says Dr. Narod. A sentiment that is echoed by Joanne Kotsopoulos, PhD, scientist at the Women’s College Research and Innovation Institute, and Canada Research Chair in Hereditary Breast and Ovarian Cancer Prevention.
“Personalized treatment exists for women with a BRCA mutation. It includes the use of drugs known as PARP inhibitors which specifically target the defect associated with the gene.” PARP inhibitors were first used to treat BRCA mutated ovarian cancers but have since been approved for use in breast and prostate cancers.
However, in the case of ovarian cancer “long-term survival remains low, so we are committed to identifying women before they develop the disease to allow for age-appropriate prevention interventions,” adds Kotsopoulos.
Looking Forward
At WCH, scientists advancing familial cancer research alongside Dr. Steven Narod and Joanne Kotsopoulos, PhD include Kelly Metcalfe, PhD and Dr. Mohammad R. Akbari. They are supported in their work by a team of research coordinators, research assistants, a biostatistician, laboratory technicians and trainees. Genetic counsellors also form a valuable part of the team.
Ongoing research studies include living as a BRCA carrier and the options for managing your cancer risk, facilitating cascade genetic testing study, and a study of familial breast cancer in BRCA mutation-negative families.
“BRCA1 and BRCA2 are the most notable discoveries, however it’s important to know that there are other genes found that result in increased risk of breast cancer, including PALB2, CHEK2 and ATM,” says Dr. Narod. Research on identifying new cancer susceptibility genes is also ongoing. In March 2023, Dr. Mohammad Reza Akbari, scientist at Women’s College Hospital led a team in the discovery of the ATRIP gene, linked to a significant risk of breast cancer development in mutation carriers.
“Going forward, I’m hoping there will be new developments in medication as a method of cancer prevention for women with genetic mutations,” shares Dr. Narod. “I also think we should expand the people who are eligible in genetic testing and especially encourage women with family history of breast or ovarian cancer to receive genetic testing.”
In recognition of the 30th anniversary of the BRCA gene discovery, WCH hosted a hybrid event on November 4 and 5, 2024: From Discovery to Impact: Celebrating 30 years of BRCA1 and BRCA2. Researchers, health professionals, patients, and the public gathered on respective days to commemorate the scientific milestone, celebrating both the lives saved and the ongoing advancements in cancer care.