Scientists have discovered a number of genetic mutations that can identify whether someone with a family history of blood cancers like leukaemia and lymphoma is at risk of developing the disease later in life.
International researchers have identified that a series of mutations in the gene, DDX41, are common in families with a history of myelodysplastic syndrome, acute myeloid leukaemia and lymphoma.
As genetic testing is currently available for mutations in DDX41, people with a familial history of blood cancer can now find out the whether they’re at risk of developing the hereditary disease.
The discovery, published in the haematology journal Blood this week, will enable thousands of people to either diagnosis the disease early and prevent it from spreading, or stop it from developing at all.
“This is the first gene identified in families with lymphoma and represents a major breakthrough for the field,” says the paper’s author, Professor Hamish S. Scott from the Centre for Cancer Biology, South Australia, which was involved in the international collaboration behind the study.
“Researchers are recognising now that genetic predisposition to blood cancer is more common than previously thought, and our study shows the importance of taking a thorough family history at diagnosis.
“Often the first symptoms of blood cancer don’t occur until the disease is advanced, so the opportunity to diagnose people at high risk will save lives.”
Every day, 34 people in Australia are diagnosed with leukaemia, lymphoma, myeloma or a related blood disorder, according to the Leukaemia Foundation.
Genetic testing is already available at SA Pathology for persons with a family history of blood cancer to establish if they have mutations in DDX41.
“If you have seven siblings and four of them have been affected by blood cancer, then you are know you have a problem [with the disease] or you know you could have a chance of having a problem,” says Prof Scott.
“Obviously if these people came forward for a clinical test and the result was negative, it would be a huge relief to them. It’s a massive psychological burden to know you are at risk of these diseases and at risk of passing them onto your children.
“If it turns out that they were positive, it might be a relief to be able to say ‘this is what the problem is’ and then just get on with it, working with their clinician to [monitor their health] and determine what they are going to do if they develop the disease.”
Prof Scott says people aged 60 and over with a family history of blood cancer have a 70 per cent chance of carrying the genetic mutation. While individuals of any age can still develop blood cancer, the chances are a lot lower for people aged under-60.
“So a person’s chances of getting blood cancers are high if they have a familial history but they are also associated with your age.”
Knowing whether or not you carry the identified genetic mutations and are at risk of developing blood cancer could reap benefits for the individual but also for relatives.
“One of the most common treatments for blood cancer is a bone marrow transplant, where bone marrow is usually donated from a family member.
“You don’t want to be transplanted with someone who has the same problem as you: and that does happen.”
Anyone interested in getting a test should contact the cancer service in their relevant state to discuss which Australian laboratories offer genetic testing and whether or not they are at risk.