A significant number of multiple myeloma patients may have an inherited but previously unrecognized risk of developing the disease—a type of blood cancer that affects plasma cells. That's the finding of a genetic study that is the first to definitively associate multiple myeloma risk with inherited differences in the BRCA1 and BRCA2 genes. The study also suggests that genetic testing for young or newly diagnosed patients could help clinicians identify the most promising treatment option for those patients.
Led by Kenan Onel, MD, Ph.D., Chief of Clinical Genomics and Director of the Center for Precision Oncology and Cancer Prevention at Roswell Park Comprehensive Cancer Center, the study is published in Blood Cancer Discovery .
Blood Cancer Discovery has also published an In the Spotlight commentary from Brian Walker, Ph.D., of the Indiana University School of Medicine.
BRCA genes are responsible for repairing DNA and preventing tumors from forming. Mutations in those genes can allow cells to grow out of control, raising the risk of breast, ovarian, prostate and pancreatic cancers, among others. The study found that compared with healthy subjects, multiple myeloma patients were more likely to have pathogenic germline variants (PGVs)—inherited changes that can increase cancer risk—in the BRCA1 and BRCA2 genes.
While multiple myeloma affects mostly older adults —95% are over 50—Dr. Onel and his colleagues discovered that patients whose BRCA genes contained PGVs, which .