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WCRI scientists make breakthrough discoveries in breast cancer research

July 2015

This spring, WCRI scientists published incredible research about breast cancer and women’s health, earning extensive media attention on a national and international level. Featured by TIME, Thompson Reuters, The Canadian Press, CBC and many more outlets, our scientists have shed light on what influences a woman’s breast cancer stage at diagnosis, how to prevent breast cancer in high-risk women, and the role of a new gene in breast cancer. Here are a few highlights.


New breast cancer gene identified by Women’s College Hospital scientists

Dr. Mohammad AkbariAbout 10 percent of breast cancers are inherited, caused by abnormal (or mutated) genes passed from parents to their children. Some of these high-risk genes have been identified by scientists, but many more await discovery.

Recently, Dr. Mohammad Akbari, scientist at Women’s College Hospital (WCH), took a deeper look at the DNA from women with a family history of breast cancer and uncovered a new breast cancer gene, RECQL — the first gene discovery at WCH.

“Our work is an exciting step in identifying new breast cancer susceptibility genes using advanced molecular genetics technologies made available in recent years,” says Dr. Akbari.

Dr. Akbari and his team began by isolating the RECQL gene as an indicator for breast cancer among a group of 195 French-Canadian and Polish women with a strong family history of the disease. The link between RECQL and breast cancer was later confirmed by the study of 25,000 additional women of French-Canadian and Polish descent, including those with or without a high risk for cancer.

Dr. Akbari found that despite the rarity of these abnormal genes, nearly one half of the women who carry RECQL mutations are destined to be diagnosed with breast cancer.

The research team plans on expanding their study of RECQL mutations to better understand how they shape breast cancer risk, survival and response to preventions and treatments.

“In the future, our work could even lead to the development of more specific treatments that can correct or work around mutations in RECQL and other genes that are linked to breast cancer,” says Dr. Akbari.

To read an abstract for the study in Nature Genetics, click here.


South Asian women more likely to be diagnosed with later stage breast cancer

Dr. Ophira GinsburgA study led by Dr. Ophira Ginsburg, scientist at Women’s College Research Institute, and colleagues at the Institute for Clinical Evaluative Sciences, analyzed the breast cancer stage at diagnosis of more than 41,000 women in Ontario. Interested in better understanding how minority groups fare in breast cancer survival and outcomes, she compared South Asian and Chinese women with women from the general population.

Her results indicated that South Asian women—but not Chinese women—were more likely to be diagnosed at a higher stage of breast cancer than the general population.
“We think that the difference between the two groups is due to the fact that Chinese-Canadian communities were among the first ethno-cultural groups to be offered tailored health promotion information on breast cancer,” says Dr. Ginsburg. “Meanwhile, cultural factors, cancer fears and stigma may pose barriers for South Asian women when seeking care for breast problems.”

Dr. Ginsburg’s study stresses the need to find better ways to educate and screen South Asian women so that they can live longer, healthier lives. This will help to advance health equity in Ontario.

The study was published in Current Oncology. To read it, click here


Removal of ovaries increases breast cancer survival in women with BRCA1 mutation

Kelly MetcalfeWomen who have a BRCA1 or BRCA2 gene mutation face a high risk of getting breast and ovarian cancer. Research has long shown that preventive ovary removal reduces the risks of these cancers in women. But could this procedure also increase the chances of survival from breast cancer after a woman with a BRCA mutation has been diagnosed with the disease?

To answer this question, Kelly Metcalfe, PhD, and Dr. Steven Narod, scientists at Women’s College Research Institute, led a study examining the impact of ovary removal on the survival of women with breast cancer and a BRCA mutation. Their study included more than 650 women with a BRCA1 or BRCA2 mutation who were diagnosed with breast cancer; just less than half had chosen to leave their ovaries intact while the remaining patients had theirs removed.

The team found that ovary removal increased breast cancer survival by approximately 50 percent in women with BRCA1 mutations, particularly when it was performed within two years of their cancer diagnosis. Ovary removal also increased breast cancer survival in women with BRCA2 mutations, but this finding was not statistically significant and requires further research.

“If a woman with a BRCA mutation develops breast cancer, she should consider having her ovaries removed as a part of her treatment.  Ultimately, it will result in an increased chance of survival for these women,” says Metcalfe. 

To read the abstract in JAMA Oncology, click here.

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