According to a paper published online in Nature Genetics, a team of scientists led by The Institute of Cancer Research (ICR) has demonstrated for the first time that a person’s genes influence their risk of developing multiple myeloma, a cancer of plasma cells, which is a type of white blood cell responsible for the production of antibodies.

Each year, approximately 4,000 people in the UK are diagnosed with multiple myeloma, an aggressive cancer that affects a type of white blood cell in the bone marrow, called plasma cells. Despite intensive treatment with a combination of drugs the average survival following diagnosis is only three to five years.

Those related to multiple myeloma patients were known to have a twofold to fourfold risk of developing the disease themselves; however until recently, scientists have not been able to discover the responsible genes.

For their study, funded primarily by Myeloma UK with additional support from Cancer Research UK and Leukaemia & Lymphoma Research, researchers scanned the DNA of 1,675 patients with multiple myeloma utilizing a technique called genome wide association study, and compared them to approximately 5,900 healthy patients.

They discovered that in people with multiple myeloma, two regions of the genome were more common and therefore associated with a higher risk of developing the disease.

Although the genes are common in the population, there is only a modest additional risk (30%) from carrying any of the genes. The researchers therefore estimate that these genes are involved in approximately 37% of multiple myeloma incidents in European countries.

Joint senior author Professor Richard Houlston from the ICR comments:

“This is a very exciting development in our understanding of multiple myeloma. This study is the first to confirm that some people are genetically predisposed to multiple myeloma. Compared to other cancer types, relatively little is known about the biological processes that cause multiple myeloma.

By identifying these genetic variants, we are closer to understanding how this cancer develops. Ultimately, this could lead to improvements in diagnosis and treatment.”

Joint senior author Professor Gareth Morgan from the ICR and The Royal Marsden NHS Foundation Trust adds:

“Multiple myeloma is an aggressive cancer that sadly has poor survival rates. By learning more about the biology of multiple myeloma development, we hope to identify new drug targets – or even existing drugs – that could improve patient outcomes.

Multiple myeloma is becoming more common as the population ages, and so it is even more important that we find new treatments.”

The team is currently conducting a larger study with the hope of discovering further genetic factors.

Eric Low, Chief Executive of Myeloma UK, comments:

“Myeloma UK welcomes the publication of this important work. Understanding the biological and genetic basis for the onset and progression of myeloma is extremely important and will lead to better screening, earlier diagnosis and treatment in the future. Despite the implications that this may have for families, the overall risk of myeloma remains very low.”

Dr Julie Sharp, senior science information manager at Cancer Research UK, adds:

“While the genes discovered in this study have a relatively small impact on the risk of multiple myeloma, this research is the first to show exactly how faulty genes can affect a person’s risk of the disease. We know relatively little about the causes of multiple myeloma and it’s likely that there are many more factors at play here, but this takes us a step forward in increasing our knowledge of the disease.”

Written by Petra Rattue