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Leukemia Mutation
Tracy Hampton, PhD
JAMA. 2007;298:32.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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Researchers have identified the first inherited gene mutation that increases an individual's risk for chronic lymphocytic leukemia (Raval A et al. Cell. doi:10.1016/j.cell.2007.03.043 [published online ahead of print June 1, 2007]). While the heritability of this cancer is relatively high, no predisposing mutation had been convincingly identified until now.
In work led by scientists at the Ohio State University Comprehensive Cancer Center, in Columbus, investigators found that loss or reduced expression of a gene that encodes a protein called death-associated protein kinase 1 (DAPK1) underlies cases of heritable predisposition to chronic lymphocytic leukemia and the majority of sporadic chronic lymphocytic leukemia cases. DAPK is involved in apoptosis, the process by which the body eliminates abnormal or unneeded cells.
In one family with multiple cases of the disease, the scientists detected a rare, germline mutation in DAPK1's control region, leading to a 75% decline in the gene's . . . [Full Text of this Article]
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