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

breastcancer1Breast 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 . Previously the BRCA1 and BRCA2 were associated with the most common cause of breast . Women with BRCA1 mutations have an average 55-65% chance of developing the disease, while the average risk of breast among women with BRCA2 mutations is around 45%.

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

The RECQL occurred 50 times more often in French Canadian women, in a family history of breast 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 , said Dr. Akbari. “Our work is an exciting step in identifying all of the relevant that are associated with inherited breast .”

“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 ,” Dr. Akbari said. “This opens the door for new and better ways of approaching treatment.”


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

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