TY - JOUR
T1 - Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia
AU - Li, Meng
AU - Collins, Roxane
AU - Jiao, Yuchen
AU - Ouillette, Peter
AU - Bixby, Dale
AU - Erba, Harry
AU - Vogelstein, Bert
AU - Kinzler, Kenneth W.
AU - Papadopoulos, Nickolas
AU - Malek, Sami N.
PY - 2011/11/24
Y1 - 2011/11/24
N2 - To further our understanding of the genetic basis of acute myelogenous leukemia (AML), we determined the coding exon sequences of ∼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 inAML.
AB - To further our understanding of the genetic basis of acute myelogenous leukemia (AML), we determined the coding exon sequences of ∼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 inAML.
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U2 - 10.1182/blood-2011-05-356204
DO - 10.1182/blood-2011-05-356204
M3 - Article
C2 - 21989985
AN - SCOPUS:82155183257
VL - 118
SP - 5914
EP - 5917
JO - Blood
JF - Blood
SN - 0006-4971
IS - 22
ER -