Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia
Menée sur 173 patients atteints d'une leucémie myélogène aiguë et 19 lignées cellulaires de ce même type de leucémie, cette étude analyse le rôle des mutations du gène BOCRL1 et suggère qu'il exerce une fonction de suppresseur de tumeurs
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 eight 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 while analysis of 19 AML cell lines uncovered four (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