New breast cancer gene identified which increases the risk of breast cancer by 50%

breastcancer1Breast cancer affected 1.7 million women globally in 2012. A new study published in the journal Nature Genetics has revealed a new RECQL mutation strongly linked to the development of breast cancer. Previously the BRCA1 and BRCA2 genes were associated with the most common cause of breast cancer. Women with BRCA1 mutations have an average 55-65% chance of developing the disease, while the average risk of breast cancer among women with BRCA2 mutations is around 45%.

Researchers from the University of Toronoto and the Women’s College Research Institute at Women’s College Hospital have identified another gene called RECQL associated with causing breast cancer. A genome analysis of 20,000 genes among 195 Polish or French-Canadian patients with or without breast cancer identified the new breast cancer gene. In order to confirm that RECQL mutations are linked to onset of breast cancer, the researchers assessed the genes of an additional 25,000 Polish and French-Canadian women with or without breast cancer.

The RECQL occurred 50 times more often in French Canadian women, in a family history of breast cancer than those without a family history of the disease.

“This study showed that studying specific founder populations like Polish and French-Canadian women is an excellent approach for identifying disease-associated genes, said Dr. Akbari. “Our work is an exciting step in identifying all of the relevant genes that are associated with inherited breast cancer.”

“In the future, we might be able to select or develop treatments that can work around or correct relevant genetic mutations that are linked to breast cancer,” Dr. Akbari said. “This opens the door for new and better ways of approaching treatment.”


Germline RECQL mutations are associated with breast cancer susceptibility, Mohammad Akbari, et al., Nature Genetics, doi:10.1038/ng.3284, published online 27 April 2015, abstract.

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