title: Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia.
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 in AML.
authors: Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins University Kimmel Cancer Center, Baltimore, MD 21231, USA.
authors: Meng
authors: M
authors: Li
authors: Roxane
authors: R
authors: Collins
authors: Yuchen
authors: Y
authors: Jiao
authors: Peter
authors: P
authors: Ouillette
authors: Dale
authors: D
authors: Bixby
authors: Harry
authors: H
authors: Erba
authors: Bert
authors: B
authors: Vogelstein
authors: Kenneth W
authors: KW
authors: Kinzler
authors: Nickolas
authors: N
authors: Papadopoulos
authors: Sami N
authors: SN
authors: Malek
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001483:Base Sequence; D056970:Co-Repressor Proteins / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D015973:Gene Expression Regulation, Leukemic; D005787:Gene Frequency; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D012097:Repressor Proteins / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: C521111:BCORL1 protein, human; D056970:Co-Repressor Proteins; D012097:Repressor Proteins