Genetic Predisposition for Blood Cancers Confirmed

Myeloproliferative disorders (MPDs) are a group of blood cancers characterized by the excess production of red and white blood cells, many cases of which being caused by a mutation in a gene called JAK2. A recent study carried out at the Wessex Regional Genetics Laboratory in Salisbury and the University of Southampton shows that there exists a genetic predisposition for this conditions which, among other, increase the risks of strokes and heart attacks.

The research reports that a certain region of chromosome 9 could acquire mutations but only in individuals with a particular makeup. The zone includes the JAK2 gene and said individuals are more than three times likely to develop an MPD, such as polycythaemia vera (PV). The leader of the research team, Professor Nick Cross, from the University of Southampton stated that: “This research provides strong evidence that at least half of the cases of PV diagnosed each year are linked to an inherited genetic variant on chromosome 9. Whilst this risk is still very small it nonetheless confirms that individual susceptibility to acquiring cancer-causing mutations is linked to genetic inheritance. Now that we have this evidence we can carry out studies to determine exactly how the variant contributes to this risk.”

Whilst in the UK, 40% of the population carries the chromosome 9 variant, only 1 in 20,000 people develop an MPD each year, but the research shows that the inheritance of this variant increases the risk of developing the disease.

The importance of the study lays in the future understanding of the ways in which predisposition to genetic mutations can lead to cancers.