A new study published in the prestigious journal Science has identified why some individuals are more resilient to blood cancer, even when cancer-causing mutations are present in their bodies. Researchers have successfully identified a rare genetic variant that significantly reduces the likelihood of developing leukemia and other similar diseases.
Blood cancer (including leukemia, lymphoma, and others) encompasses diseases that affect the blood, bone marrow, and lymphatic system. In most cases, these are caused by accumulated errors in DNA—mutations—that manifest as a person ages.
The study’s primary focus was on a process called clonal hematopoiesis (CH). This occurs when a blood-forming stem cell mutates and begins to produce a large population of identical mutated cells, which serves as a precursor to the development of cancer.
Scientists conducted a GWAS meta-analysis involving more than 640,000 participants. They discovered a specific variant on chromosome 17—rs17834140-T—which protects individuals from developing CH.
Experiments demonstrated that this genetic variant reduces the levels of the protein MSI2. The MSI2 protein acts as a growth promoter for stem cells; in the context of cancer, it forces mutated cells to proliferate rapidly and overtake the bone marrow.
However, in those who carry this protective variant, MSI2 levels are lower. Consequently, mutated cells grow much more slowly, and the chance of them transforming into leukemia decreases. It was determined that individuals with this variant have a 30% lower risk of developing blood cancer.
This discovery fundamentally shifts the approach to fighting the disease. Instead of medicine only confronting fully-formed tumors, scientists now have the opportunity to develop medications that mimic the body’s natural defense mechanisms.
Learning how natural resilience to cancer is formed through inherited genetic factors marks a turning point for modern medicine.
