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Researchers uncover gene associated with blood cancers
Date:9/26/2011

aking it one of the most frequently mutated genes so far discovered in this disease. Researchers found mutations of the same gene in up to 5 per cent of a range of other common cancers, such as other leukaemias, breast cancer and kidney cancer.

"Anaemia affects 1 in 10 people over the age of 65, and we cannot easily find a cause for the anaemia in a third of cases," says Peter Campbell, senior author, from the Sanger Institute and a practicing Haematologist at Addenbrooke's Hospital, Cambridge. "To diagnose myelodysplasia, we often have to resort to an invasive and painful bone marrow biopsy, but we hope this and future genetic insights will provide more straightforward diagnosis for patients through a simple blood test."

"Ever since I first saw these unusual and damaging blood cells - ring sideroblasts - down the microscope while training to become a haematologist, I have been fascinated by them and determined to find a cause. To discover a major genetic clue to their origins is very exciting, and I look forward to piecing together how the mutations cause these curious cells to develop and lead to this disease."

The SF3B1 gene encodes a core component of RNA splicing, an important editing mechanism that controls how the genome's message is delivered to the cell. The team discovered a strong association between the gene and the presence of ring sideroblasts, making it the first gene to be strongly associated with a specific feature of the disease. Ring sideroblasts are abnormal precursors to mature red blood cells with a partial or complete ring of iron-laden mitochondria (energy generators) surrounding the nucleus of the cell. Their presence is frequently associated with anaemia.

"These genetic discoveries are very important and could potentially assist clinicians when diagnosing blood cancers in patients, avoiding the need for invasive bone marrow biopsies. Myelodysplasia is becoming increasingly prevalent in people over 60, an
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Contact: Don Powell
press.office@sanger.ac.uk
44-012-234-96928
Wellcome Trust Sanger Institute
Source:Eurekalert

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