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New Genetic Mutation Found in Breast Cancer

A team of Canadian – Polish researchers, led by Toronto’s Women’s College Hospital (WCH) researcher Dr. Mohammad Akbari, has identified a new genetic mutation strongly linked with breast cancer.

The study, published online in Nature Genetics, describes how mutations in a gene called RECQL are strongly linked to the onset of breast cancer in two “founder” populations of Polish and French-Canadian women who share rather homogenous genetic structures.  “Founder” populations are modern groups that descend from a few individuals who left one area to settle in another for various reasons.

In this study, about 20,000 different genes were examined among 195 breast cancer patients with strong family histories of the disease who did not have a mutation in BRCA1 or BRCA2. In the past years, a handful of research showed that women with an abnormal BRCA1 or BRCA2 gene have up to an 80% risk of developing breast cancer.

Compared to “control” populations, one type of RECQL mutation showed a five-fold increased risk for developing breast cancer in the Polish group, while within the French-Canadian population, another type of RECQL mutation occurred 50 times more frequently among familial breast cancer patients.

“Our work is an exciting step in identifying all of the relevant genes that are associated with inherited breast cancer,” said Akbari, an Iranian-origin scientist, who is also an assistant professor at Dalla Lana School of Public Health at the University of Toronto, as quoted by ISNA.

Approximately 10% of all breast cancer cases are hereditary, though it’s believed that only half of all breast cancer susceptibility genes are known.

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