Study identifies genetic cause of leukemia risk

27 March 2015

A new study, published in the journal Nature Genetics, has identified a newly discovered genetic cause of acute lymphoblastic leukemia (ALL). 

A specific mutation of the gene ETV6 puts patients at an increased risk of developing the disease, much like BRCA mutation marks people out for breast and ovarian cancers. It is hoped this will enable doctors to better predict those patients who are most at risk of ALL, and could even lead to more advanced therapies to prevent the disease.

Research from the University of Colorado Cancer Center found that people are born with a broken gene, which "sets them up for leukemia" 

Dr Chris Porter, investigator at the CU Cancer Center and associate professor in the Department of Pediatrics at the CU School of Medicine, said it all started when one family had an abnormally high rate of ALL.Pediatrics at the CU School of Medicine, said it all started when one family had an abnormally high rate of ALL.

According to Dr Porter, all of them had big red blood cells, low platelet counts and propensity to bleed and this familial link to abnormal blood dynamics and predisposition to ALL implied a common genetic denominator. 

To confirm this, the team sifted through data to compare these high-risk genomes with normal-risk genomes and found the key difference was mutation of the gene ETV6.

Posted by Edward Bartel

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