{"owner": "ArrayExpress Uploader", "pop_total": 0, "id": 4155, "factors": [{"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM755012": {"BCOR MUTATION": "BCOR mutation"}}, {"GSM75500": {"BCOR MUTATION": "wild-type"}}], "ownerprofile_id": "arrayexpress_sid", "platform": 4, "summary_wrapped": "Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting...", "pubmed_id": 22012066, "geo_gse_id": "E-GEOD-30442", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 1, "sample_count": 24, "tags": ["chromosome", "protein", "syndrome"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_gds_id": "", "slug": "whole-exome-sequencing-identifies-mutations-of-bco", "geo_id_plat": "E-GEOD-30442_A-AFFY-44", "name": "Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype", "created": "Sep.16, 2014", "summary": "Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3, MLL-PTD and IDH1, we newly identified a clonal somatic mutation in BCOR (BCL6 co-repressor), a gene located in chromosome X. Further analyses showed that BCOR mutations occurred in 11/262 (4.2%) CN-AML cases and represented a substantial fraction (14/82, 17.1%) of CN-AML patients showing the same genetic background as the index patient subjected to WES. BCOR somatic mutations were: i) disruptive events similar to germline BCOR mutations causing the oculo-cranio-facial-dental (OCFD) genetic syndrome; ii) associated with markedly decreased BCOR mRNA levels, absence of full-length BCOR and absent or low expression of a truncated BCOR protein; iii) almost mutually exclusive with NPM1 mutations and frequently associated with DNMT3A and RUNX1 mutations, pointing to a cooperation between these events. Finally, BCOR mutations correlated with poor outcome among a cohort of 160 CN-AML patients (28% versus 66% overall survival at 2 yrs, P=0.024). Our results implicate for the first time BCOR in the pathogenesis of CN-AML without NPM1 mutations. AML samples with normal karyotype were studied. Molecular analyses were performed for BCOR mutations. 12 BCOR wild-type cases and 12 BCOR mutated cases were hybridized to gene expression micro-arrays.", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-30442", "species": "human", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-30442/samples/"}