Science & Health

Australian Researchers Discover Family Blood Cancer Gene

A genetic discovery from Professor Hamish Scott and his research team at the Centre for Cancer Biology will help to identify and monitor people at very high risk of developing blood cancers such as leukaemia and lymphoma.

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Mutations in the gene, DDX41, are significant in families where myelodysplastic syndrome, acute myeloid leukaemia and lymphoma are common.

The research presents a major breakthrough for families with a history of blood cancers.

Professor Scott and colleagues at the CCB founded the Australian Familial Haematological Cancer Study to help families with a history of blood cancer. To date, they have collected more than 100 families.

Their genetic research, using the very latest gene sequencing technologies, is part of an international collaboration with the University of Chicago that discovered mutations in the DDX41 gene.

“This is the first gene identified in families with lymphoma and represents a major breakthrough for the field,” Prof Scott says.

“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.”

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.

“DDX41 is a new type of cancer predisposition gene and we are still investigating its function, but it appears to have dual roles in regulating the correct expression of genes in the cell and also enabling the immune system to respond to threats such as bacteria and viruses, as well as the development cancer cells,” Prof Scott says.

“Immunotherapy is a promising approach for cancer treatment and our research to understand the function of DDX41 will help design better therapies.

“This kind of research is only possible through the collaboration of many groups and we are fortunate to have access to world class facilities through the Australian Cancer Research Foundation Cancer Genomics Facility at the Centre for Cancer Biology, the willing participation of families living with blood cancer and the support of the Clinical Genetics Service at SA Pathology.”

Professor Scott and colleagues received valuable funding for their research from the National Health and Medical Research Council (NHMRC) of Australia, the Cancer Council of South Australia, the Leukaemia Foundation and the University of South Australia.

The Centre for Cancer Biology is an alliance between the University of South Australia and SA Pathology.

[Blood Journal]

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