The research, which was carried out in conjunction with the University of Southampton and funded by Leukaemia Research, has shown that genetic susceptibility to a series of blood cancers, known as myeloproliferative disorders (MPDs), is linked to a particular area of the patient's DNA which is prone to developing mutations.
MPDs are characterised by the overproduction of red and white blood cells and many cases are caused by a mutation in a gene called JAK2. When the JAK2 gene has mutated, it sends abnormal messages to the blood stem cells to produce more and more blood cells.
The study has found that a particular region of chromosome 9 that carries the JAK2 gene is predisposed to acquiring mutations, but only in individuals with a particular genetic makeup.
Professor Nick Cross, Director of the Wessex Regional Genetics Laboratory at Salisbury District Hospital said: " It is likely that this finding will lead to a much better understanding of how the JAK2 gene mutations happen and why they lead to an increased risk of someone developing an MPD."
"The chromosome 9 variant is present in 40% of the UK population but only 1 in 20,000 people develop an MPD each year. Nonetheless, the new research has confirmed that the inheritance of this genetic variant can contribute to inherited susceptibility to develop a MPD."
Professor Cross added: " This is a very important step forward in our knowledge of the causes of myeloproliferative disorders. It helps us to understand why some people might be predisposed to acquiring genetic mutations that lead to cancers. "
Notes to Editors
The report is published online from 15 March 2009 in the journal Nature Genetics under the title 'JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms'. The corresponding author is Prof Nicholas Cross of the Human Genetics Division, University of Southampton and the Wessex Regional Genetics Laboratory, Salisbury. The study was funded by the cancer charity Leukaemia Research.
Just over 3,200 people (1/20,000 people) are diagnosed with myeloproliferative disorders (MPDs) in the UK each year, overwhelmingly in later life. MPDs are a group of conditions characterised by the overproduction of blood cells. There are three main disorders, classified according to the cell affected: polycythaemia vera (PV), essential thrombocythaemia (ET) and myelofibrosis (MF). PV is characterised by the overproduction of red blood cells, ET by the overproduction of blood platelets and MF by the overproduction of fibrous (scar) tissue.
For further information please contact:
Patrick Butler, Public Relations Manager, Salisbury NHS Foundation Trust. Tel: 01722 42517