Author: Patricia Nicholson

On May 5, Women’s College Hospital hosted The Spirit of Discovery in Women’s Health Research as part of the hospital’s 100th anniversary celebrations. The day-long event showcased some of the groundbreaking research taking place at the hospital and at WCRI.

BRCA mutations in Jewish women

Women’s College Hospital has always been a leader in cancer screening, explained Kelly Metcalfe, PhD. The Jewish Women Undergoing Genetic Testing for BRCA 1 and 2 study continues that legacy.

WCRI researcher Dr. Steven Narod was instrumental in the discovery of the BRCA 1 and 2 gene mutations in the mid-1990s. These gene mutations are associated with an 85 per cent lifetime risk of breast cancer, compared to an 11 per cent lifetime risk in the general population, Dr. Metcalfe explained.

In the general Caucasian population, about one in 250 women carry a BRCA mutation. However, the mutations are more common in certain groups, such as women of Ashkenazi Jewish descent (Jewish populations from central and eastern Europe).

Despite the higher prevalence in these women, most do not meet BRCA testing criteria, which include personal or family history of breast or ovarian cancer in specific patterns. What Dr. Metcalfe’s research explores is whether there may be missed opportunities to test women who might benefit from BRCA testing, despite not meeting the criteria.

To investigate, she and her colleagues recruited 1,000 Jewish women who did not necessarily meet screening criteria. Interest was so strong that they doubled the participants, recruiting 2,080 women ranging from their 20s to their 70s.

The results showed that the incidence of BRCA mutation in these women was one in 100 – far higher than in the general population.

Dr. Metcalfe noted that this was surprising, since most of the women had no family or personal history of cancer. The researchers then went back to look at how many of the women with BRCA mutations would have been eligible for testing under provincial guidelines. They discovered that half of the women carrying BRCA mutations were not eligible for testing.

The study has now been expanded to include more than 5,000 women, and further research questions. For example, Dr. Metcalfe and her colleagues are investigating what the women are doing with the information from their test results, and how it is affecting their lives.

Negative test, but increased risk

But not all women with an increased cancer risk are BRCA carriers. In ‘The Negative Study,’ Joanne Kotsoupoulis, PhD, is analyzing risks in women with a strong family history of breast cancer, but no BRCA mutations.

Among women with a strong family history of breast cancer, only about 25 per cent have a BRCA mutation. Dr. Kotsoupoulis is investigating the risks for the 75 per cent of this population who don’t have a mutation. Her study involves 1,400 women from 365 families with a history of breast cancer.

Research indicates that these women have a 40 per cent lifetime risk of breast cancer: higher than the general population, but not as high as BRCA carriers.

Dr. Kotsoupoulis noted that BRCA-negative women with a strong family history are far more numerous than women with BRCA mutations, but there is little scientific evidence about how best to care for this group. Her research objectives include investigating factors that affect risk, such as hormonal and reproductive factors (birth control pills, childbearing), diet, and risk reduction through preventive surgery and chemoprevention.

Ultimately, the goal is to establish screening and treatment options for this large group of women with increased risk of breast cancer.

Beyond our borders

Screening and treatment programs have paid off over the decades: breast cancer prognoses have improved markedly over the years for women in Canada, especially for those who are diagnosed early. But in other parts of the world, breast cancer remains a neglected disease.

WCRI scientist Dr. Ophira Ginsberg notes that in low-income countries, four out of five cancers are diagnosed at late stage, and 80 per cent of those diagnosed will die of their disease. In Bangladesh, more than 32,000 women are diagnosed with breast cancer every year, Dr. Ginsberg told the crowd at Spirit of Discovery.

Last October, a breast cancer clinic was opened in rural Bangladesh providing one-stop outpatient care. Every Monday morning, Dr. Ginsberg participates in a video conference that links North American cancer specialists with the clinic team in Bangladesh, to help the doctors in the field manage cases more effectively.

The aim is to provide sustainable, cost-effective care that is manageable with local resources. For example, a mobile application allows local community health workers in Bangladesh to identify and report on cases using cell phones, which are even more common in Bangladesh than they are in North America.

‘We’re hoping that the research we’re conducting in breast cancer in Bangladesh and other countries will help develop a model for other chronic disease care and management,’ Dr. Ginsberg said.