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Unlocking Gene Mutations Linked to Triple-Negative Breast Cancer

August 08, 2018


By Sara Bondell

People at risk for a deadly form of breast cancer may now have a better chance for early diagnosis and protection from recurrence.

According to a new study published in the Journal of the National Cancer Institute, researchers have identified specific genes that are linked to an increased risk for developing triple-negative breast cancer.

Dr. Xia Wang, MD
Dr. Xia Wang, MD, clinical geneticist

Triple-negative breast cancer accounts for 15 percent of breast cancer in Caucasians and 35 percent in African Americans. It is one of the hardest types of breast cancer to treat because it is difficult to diagnose early and spreads quickly. It is also associated with an increased recurrence risk and poor five-year survival rates compared to other breast cancers. 

Researchers looked at genetic panels for more than 10,000 patients and found that mutations in five specific genes were linked to a risk of triple-negative breast cancer and a 20 percent lifetime risk of any breast cancer.

The study shows that expanded genetic testing that includes these five genes can be used to identify women who are at risk of developing triple-negative breast cancer. This could then ultimately lead to better screening, risk management, cancer prevention strategies and more targeted therapies.

“Finding that these genes play a role in triple-negative breast cancer provides a better understanding of this group of tumors,” said Moffitt geneticist Dr. Xia Wang. “Beyond guidelines for prevention, screening and genetic testing, this research could pave the way for more targeted treatment down the road.”

Wang emphasizes that there is still a lot to learn about triple negative breast cancer, but that the discovery of this tumor type associated with these genes will help doctors to “connect the dots” when diagnosing and treating patients.

For more information on genetic screening services at Moffitt, click here.