Researchers discover gene responsible for chemotherapy-induced heart damage

Vancouver, BC – In a paper published recently in Nature Genetics, an Michael Smith Foundation for Health Research (MSFHR)-supported research team identified a specific gene variant that increases the risk of developing severe heart damage by five-fold in cancer patients treated with anthracyclines.

This class of drugs is prescribed to nearly one million patients every year to treat leukemia, breast cancer, and many other tumour types. Despite being an important drug class in cancer treatment, anthracyclines cause cardiac dysfunction in up to 57 percent of treated patients and congestive heart failure in up to 30 percent of treated patients.

The BC researchers, based at the Child & Family Research Institute, BC Children’s Hospital, and the University of British Columbia, found that a variant of the retinoic acid receptor-gamma (RARG) gene is strongly linked to anthracycline toxicity. Their discovery lays the foundation for a predictive genetic test that will identify those who are at the greatest risk of serious toxicity.

Armed with this information, clinicians will be able to tailor chemotherapy for individual patients according to their degree of risk for toxicity. Oncologists at BC Children’s Hospital have already begun screening patients in this manner prior to chemotherapy.

The study was funded in part through a 2013 MSFHR Trainee Award granted to co-lead author Dr. Folefac Aminkeng, a post-doctoral fellow at the Child & Family Research Institute. Six other researchers who have been directly supported by the MSFHR also contributed to this project, including Drs. Amit P Bhavsar, Colin JD Ross, Bruce C Carleton, Michael R Hayden, Liam R Brunham, and Henk Visscher.