New Blood Cancer Research Reveals How Mutations in a Specific Gene Cause Different Types of Disease

New Blood Cancer Research Reveals How Mutations in a Specific Gene Cause Different Types of Disease

New research from leading cancer experts at the University of Birmingham has now solved long-standing questions of how various types of mutations in one gene cause different types of cancers.

A team of researchers and scientists, led by Constanze Bonifer, studied the gene RUNX1, which is responsible for providing molecular instructions for the development of blood cells and is commonly mutated in blood cancers. The research is a culmination of four years of study.

The results of their research have shown that the balance of cell types in the blood is affected much earlier than previously thought, which is particularly important for families that carry the mutant gene.

The research, published in Life Science Alliance, opens up the possibility of identifying early stages in cells of patients carrying the mutation even before any disease manifests itself—increasing their personal and family chances of survival.

Lead author Professor Constanze Bonifer said: “The most important results we found came from studying mutations that run in families which predisposes their members to diseases such as Familial Platelet Disorder (FPD) and Acute Myeloid Leukemia (AML). “AML is an aggressive cancer of the white blood cells, whereas, in FPD, the ability to produce blood clots which are required to stop bleeding is impaired. Prior to this study, it was completely unclear why changes in just one gene cause so many different diseases.”

Furthermore, a coauthor of the study explained, “We found that every RUNX1 mutation changed cells in a different way and had a different impact on how genes responded”.

Finally, the team now plans to work with clinicians and families carrying mutant RUNX1 proteins, to examine patient blood cells to see whether their findings in cultured cells can also be seen in patient blood cells, in particular, before they develop any symptoms.

What does this mean for you?

Genetic testing can further the information on the genes you or a loved one carry. Research shows that genetic testing can help your provider recommend more precise treatment options. Genetic testing can also help you determine whether you (or your loved one) are at an increased risk for cancer and how to improve the prognosis. 

Vita Medical Solutions is proud to partner with laboratories to facilitate access to advanced hereditary cancer (CGx) genetic testing.

Learn more about your personal and family genetic makeup and personalized medicine options through our genetic test offerings. Read more specifically about CGx testing here:

With qualifying insurance, this test can cost you nothing out of pocket. Click below to schedule a call with one of Vita Medical’s Patient Services Consultants to find out your eligibility.

Call us at 1.800.590.9292 (toll-free) or email at [email protected].


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