Genetic defect discovery 'could aid future cancer diagnosis'

6 September 2011

An international research collaboration has discovered a specific type of genetic defect that could aid cancer diagnosis for those at risk of leukaemia.

The universities of Adelaide and Washington have assessed the genes of four families over a number of years and found that certain mutations found in the GATA2 gene can predisposes people to acute myeloid leukaemia and myelodysplasia.

This gene plays a key role in controlling the transition of primitive blood-forming cells into white blood cells, with errors in this gene causing a variety of different health conditions.

With the discovery of this link, patients could be given tests to detect genetic errors before cancer symptoms emerge, which could aid early cancer diagnosis and improve treatment conditions.

Dr Marshall Horwitz, the University of Washington's professor of pathology, observed: "While several genes have been discovered and linked to solid, malignant tumours such as breast cancer ... so far very few inherited mutations have been uncovered for blood cancers."

This comes after Science Translation Journal published a study last week revealing a rare genetic mutation that may be responsible for a form of blood cancer known as epithelioid hemangioendothelioma.

Posted by Edward Bartel


1 Hahn, Christopher N et al, "Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukaemia", Nature Genetics, September 4th 2011

2 Tanas, Munir R et al, "Identification of a Disease-Defining Gene Fusion in Epithelioid Hemangioendothelioma", Science Translational Medicine, August 31st 2011


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