Study reveals how genetic mutations combine to cause cancer

Blood cells

UK scientists have uncovered the interplay between cancer-driving genetic mutations and inherited genetic variants in a rare type of blood cancer.

In the future, this knowledge could aid drug development and interventions that reduce the risk of disease.

Researchers from the Wellcome Sanger Institute, the University of Cambridge, and collaborators, combined various comprehensive data sets to understand the impact of both cancer-driving spontaneous mutations and inherited genetic variation on the risk of developing myeloproliferative neoplasms (MPN).

The study describes how inherited genetic variants can influence whether a spontaneous mutation in a particular gene increases the risk of developing this rare blood cancer.

Further research is required to understand the biological mechanisms behind how these inherited genetic variants influence the chances of developing rare blood cancer.

The impact of DNA variants on disease risk

Myeloproliferative neoplasms (MPNs) are a group of rare, chronic, blood cancers, which occur when the bone marrow overproduces blood cells, which can result in blood clots and bleeding. MPNs can also progress into other forms of blood cancer, such as leukaemia.

MPNs have been linked to random somatic mutations in certain genes including in a gene called JAK2. However, mutated JAK2 is commonly found in the global population, and the vast majority of these individuals do not have or go on to develop MPN.

The study found that the inherited variants that cause natural blood cell variation in the population also impact whether a JAK2 somatic mutation will go on to cause MPN.  They also found that individuals with an inherited risk of having a higher blood cell count could display MPN features in the absence of cancer-driving mutations, thus, mimicking disease.

Dr Jing Guo, first author from the Wellcome Sanger Institute and the University of Cambridge, said: “Our large-scale statistical study has helped fill the knowledge gaps in how variants in DNA, both inherited and somatic, interact to influence complex disease risk. By combining these three different types of datasets we were able to get a more complete picture of how these variants combine to cause blood disorders.”

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