Can people can be genetically susceptible to P. vera?

Myeloproliferative neoplasms – personal stories | Leukaemia and Lymphoma Research.

People can be genetically susceptible to the series of rare blood cancers

Professor Nick Cross and his team at the University of Southampton have shown that people can be genetically susceptible to the series of rare blood cancers known as myeloproliferative neoplasms (MPNs). His team have identified a particular area of the patient’s DNA which is prone to developing mutations.

Professor Cross discovered 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. 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 MPN.

The team at the laboratory, which is part of the University of Southampton, found that people carrying this mutation-prone region of DNA on chromosome 9, which includes the JAK2 gene, have triple the risk of developing a MPN.

The link is especially strong in polycythaemia vera (PV), one of the main three MPNs. Professor Cross says:  “Our 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 is linked to genetic inheritance. “