Gene defect that may cause leukaemia discovered

Scientists have discovered a new genetic mutation which they say could identify people who are susceptible to acute myeloid leukaemia, a type of blood cancer that kills thousands every year. An international team of researchers found mutations in a gene, called GATA2, which among other roles, controls the process that changes primitive blood-forming cells into white blood cells.

The findings, published in the journal Nature Genetics, could lead to a genetic test allowing people with a family history of leukaemia to find out if they carry the faulty gene before their symptoms emerge, the researchers said. The researchers started by studying four families who, over generations, have had several relatives with acute myeloid leukaemia. Their disease onset occurred from the teens to the early 40s.

Previously, scientists linked mutations in 2 other genes, RUNX1 and CEBPA, to inherited forms of myelodysplastic syndrome and acute myeloid leukaemia. These genes bind to DNA and control the copying of information encoded in this molecule. Read more…


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