Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia

Academic Article


  • 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. © 2011 by The American Society of Hematology.
  • Authors

    Published In

  • Blood  Journal
  • Digital Object Identifier (doi)

    Author List

  • Li M; Collins R; Jiao Y; Ouillette P; Bixby D; Erba H; Vogelstein B; Kinzler KW; Papadopoulos N; Malek SN
  • Start Page

  • 5914
  • End Page

  • 5917
  • Volume

  • 118
  • Issue

  • 22