期刊
BLOOD
卷 118, 期 22, 页码 5914-5917出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2011-05-356204
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资金
- Leukemia & Lymphoma Society, Virginia
- D. K. Ludwig Fund for Cancer Research
- National Institutes of Health [CA46592, CA43460, CA57345]
To further our understanding of the genetic basis of acute myelogenous leukemia (AML), we determined the coding exon sequences of similar to 18 000 protein-encoding genes in 8 patients with secondary AML. Here we report the discovery of novel somatic mutations in the transcriptional corepressor gene BCORL1 that is located on the X-chromosome. Analysis of BCORL1 in an unselected cohort of 173 AML patients identified a total of 10 mutated cases (6%) with BCORL1 mutations, whereas analysis of 19 AML cell lines uncovered 4 (21%) BCORL1 mutated cell lines. The majority (87%) of the mutations in BCORL1 were predicted to inactivate the gene product as a result of nonsense mutations, splice site mutation, or out-of-frame insertions or deletions. These results indicate that BCORL1 by genetic criteria is a novel candidate tumor suppressor gene, joining the growing list of genes recurrently mutated in AML. (Blood. 2011;118(22):5914-5917)
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