INHERITED BRCA mutations may sharply increase the risk of early-onset multiple myeloma, according to new research. This study is the first to definitively connect these genetic mutations with a higher likelihood of early-onset myeloma.
Multiple myeloma typically affects older adults, 95% of cases are in patients over 50, the study found that patients with BRCA1 or BRCA2 mutations were more likely to be diagnosed at a younger age. These patients also frequently had a personal or family history of cancer, suggesting that genetic predisposition plays a critical role in the disease’s development. The research suggests that genetic testing could be crucial for younger or newly diagnosed patients with a family cancer history, not only to better understand their risk but also to guide treatment decisions. Patients carrying these BRCA mutations were found to respond better to treatments involving melphalan, an alkylating chemotherapy, in combination with autologous stem cell transplants, currently the only curative treatment for multiple myeloma.
The study was led by Kenan Onel, Chief of Clinical Genomics and Director of the Center for Precision Oncology and Cancer Prevention at Roswell Park Comprehensive Cancer, Buffalo, New York. The study drew on data from the two largest multiple myeloma datasets in the world, including the CoMMpass Study of the Multiple Myeloma Research Foundation and data from Mount Sinai’s Tisch Cancer Institute. A total of 1,681 patients were included in the analysis.
“These findings underscore the importance of genetic testing for cancer predisposition, which can expand treatment options and improve outcomes for patients,” said Onel. The study emphasizes the growing role of precision medicine in tailoring cancer treatments based on a patient’s genetic profile.
Reference: Thibaud S et al. Multiple myeloma risk and outcomes are associated with pathogenic germline variants in DNA repair genes. Blood Cancer Discov. 2024.
Anaya Malik | AMJ
