Beyond BRCA: Gene Mutations in Breast Cancer

The differences seen in just over 5 years in regards to the existing knowledge of non-BRCA genes are astronomical. Since then, there has been an explosion of knowledge about other genes, the 3 most common of which are PALB2, CHEK2, and ATM. In addition, Lynch Syndrome, which was thought to only be related to colon cancer shares genes that have been linked to breast cancer.

“The genetic hereditary cancer syndromes are much more complicated than we thought, and there are many, many more genes that would have an impact on how we follow women and potentially can prevent breast cancer in these women,” said Julie Nangia, MD, Assistant Professor of Medicine, Baylor College of Medicine.

Additionally, she says, FDA approval of PARP inhibitors - drugs made for BRCA mutation carriers - have caused a proliferation of research in all tumor types associated with BRCA and other mutations that are in those same pathways. These trials are pursuing treatments that could be less toxic, prevent the need for chemotherapy, and prevent recurrences.