Discovery of cancer gene means new test for blood cancer

Thursday 9 January 2014
Dr Athar Aziz

The University of Salford has contributed to the discovery of a new cancer gene which will enable scientists to develop a less invasive test for chronic blood cancers.

There is currently a test for around 60% of chronic blood cancers, but the cause of the other 40% - affecting 30,000 people a year in the UK - was unknown. This group of cancers causes the over-production of red blood cells and platelets, which leads to blood clots then strokes and heart attacks. Some disorders can become more aggressive over time and may even develop into acute leukaemia.

However, a major breakthrough has been made by research led by the University of Cambridge and the Wellcome Trust Sanger Institute, through the identification of CALR, the gene which causes this group of cancers. By sequencing the DNA of patients, the researchers found that CALR was mutated, resulting in chronic blood cancers, high platelet counts and low haemoglobin levels.

Dr Aziz, Lecturer in Biomedical Science at the University of Salford’s School of Environment & Life Sciences, contributed to the study by designing the specific probes to test the quantity of abnormal CALR and localisation of abnormal protein.

Dr Aziz said: “Diagnosis of blood cancer commonly requires highly invasive and painful procedures like bone marrow biopsy and requires multiple tests. This discovery will not only lead to new genetic testing for diagnosis but will also shed light on the genetic mechanism that leads to chronic blood cancers.” 

Dr Jyoti Nangalia from the University of Cambridge said: “Not only will the identification of CALR lead to a new, less invasive test, we also hope that it can lead to new treatments. The CALR gene is involved in a cell function – aiding with the folding of proteins made by the cell - which has not been implicated in these disorders before, so our research raises as many questions as it answers.”

The study was supported by Leukaemia & Lymphoma Research together with the Kay Kendall Leukaemia Fund.