New Breast Cancer Gene Discovered

Scientists have discovered a new breast cancer gene, providing insight into the most common cancer among American women, according to new research.

A team led by Women's College Hospital (WCH) describes in the journal Nature Genetics how mutations in a gene called RECQL are strongly linked to the onset of breast cancer in two populations of Polish and French-Canadian women.

"Our work is an exciting step in identifying all of the relevant genes that are associated with inherited breast cancer," researcher Dr. Mohammad Akbari, who is also an assistant professor with the Dalla Lana School of Public Health at the University of Toronto, said in a press release.

In 2012, almost 1.7 million women were diagnosed with the disease, accounting for around 12 percent of all new cancer cases, according to Medical News Today.

Approximately 10 percent of all breast cancer cases are hereditary, resulting from mutations in genes passed down from a parent. Though, it is believed that only half of the gene mutations associated with breast cancer development have been discovered thus far.

Mutations in the BRCA1 and BRCA2 genes are the most common causes of hereditary breast cancer. Women with BRCA1 mutations have an average 55-65 percent chance of developing the disease, while the average risk of breast cancer among women with BRCA2 mutations is around 45 percent.

In this study, researchers looked at about 20,000 different genes, among 195 breast cancer patients with strong family histories of breast cancer who did not have a mutation in BRCA1 or BRCA2. The patients came from two populations - a Polish group and a French-Canadian group.

After studying 25,000 more patients and unaffected people from these two populations, it was concluded that the RECQL gene was linked to breast cancer.

Specific, recurrent RECQL mutations within both the Polish and French-Canadian populations were identified in this study. Within the Polish group, one type of RECQL mutation showed a 5-fold increased risk for developing breast cancer compared to individuals without a mutation. Meanwhile, within the French-Canadian population, another type of RECQL mutation occurred 50 times more frequently among familial breast cancer patients, compared to population controls.

The researchers point out that although RECQL mutations appear to be quite rare, the risk of breast cancer among women who have them appears to be very high. It is estimated that up to 50 percent of women with a RECQL mutation will develop breast cancer.

Based on their findings, the researchers conclude that RECQL is a breast cancer susceptibility gene. Next, the team plans to search for the presence of RECQL mutations among women from other populations.

Meanwhile, Akbari and his colleagues recommend screening for genetic mutations among women with breast cancer, as identifying such mutations could aid treatment for the disease.

"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," explained Akbari. "This opens the door for new and better ways of approaching treatment."

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