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Discovery of the new breast cancer susceptibility gene, RECQL, made possible in part by CBCF Funding

Published On 4/29/2015

Canadian Breast Cancer Foundation (CBCF) funded researcher Dr. Mohammad Akbari and his team of international researchers have identified a new breast cancer susceptibility gene, RECQL. 
 
Dr. Akbari was the lead researcher on this study, who in collaboration with Canadian and Polish researchers found a strong link between the mutations in the gene called RECQL and the onset of breast cancer in a sample of Polish and French-Canadian women.
 
The findings, published in the journal Nature Genetics, involved more than 25,000 women with and without breast cancer within the French-Canadian and Polish “founder” populations. The findings offer new insight into hereditary breast cancer.
 
The mutation of the RECQL gene itself is rare; however those with the mutated gene have a 50 per cent chance of developing breast cancer. This discovery has significant implications for prevention, diagnosis and treatment. It could lead to targeted treatments for this subset of breast cancer patients, and even help prevent cancer by giving those who know they have the mutation the option of prophylactic mastectomy.
 
CBCF continues to invest in the best and brightest minds, leading us closer to a future without breast cancer.