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

Meng Li, Roxane Collins, Yuchen Jiao, Peter Ouillette, Dale Bixby, Harry Erba, Bert Vogelstein, Kenneth W. Kinzler, Nickolas Papadopoulos, Sami N. Malek

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)5914-5917
Number of pages4
JournalBlood
Volume118
Issue number22
DOIs
StatePublished - Nov 24 2011

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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