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

Journal Article (Journal 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 in AML.

Full Text

Duke Authors

Cited Authors

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

Published Date

  • November 24, 2011

Published In

Volume / Issue

  • 118 / 22

Start / End Page

  • 5914 - 5917

PubMed ID

  • 21989985

Pubmed Central ID

  • 21989985

Electronic International Standard Serial Number (EISSN)

  • 1528-0020

Digital Object Identifier (DOI)

  • 10.1182/blood-2011-05-356204


  • eng

Conference Location

  • United States