A novel t(X;21)(p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in myelodysplastic syndromes and acute myeloid leukemias
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DOI: 10.1002/gcc.23235
Abstract: In myeloid neoplasms, both fusion genes and gene mutations are well‐established events identifying clinicopathological entities. In this study, we present a thus far undescribed t(X;21)(p11.4;q22.12) in five cases with myelodysplastic syndrome (MDS) or acute myeloid… read more here.
Keywords: runx1; acute myeloid; bcor; p11 q22 ... See more keywords
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
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DOI: 10.1007/s00439-018-1896-x
Abstract: Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia (‘Lenz’-type) syndrome affecting males. OFCD is an X-linked dominant syndrome caused… read more here.
Keywords: phenotype; male linked; microphthalmia; linked bcor ... See more keywords
Analysis of a BCOR internal tandem duplication in mouse embryonic stem cell to neuronal precursor differentiation.
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DOI: 10.1093/genetics/iyaf133
Abstract: BCOR (BCL-6 corepressor) is a component of variant Polycomb Repressive Complex 1.1 (vPRC1.1), one of several vPRC1 complexes that catalyze histone H2A ubiquitination thought to play an important role in PRC2 binding and the deposition… read more here.
Keywords: differentiation; itd; internal tandem; tandem duplication ... See more keywords
MODL-04. MODELING CNS HGNET-BCOR PATHOGENESIS USING NEURAL STEM CELLS
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DOI: 10.1093/neuonc/noaa222.581
Abstract: Abstract Central nervous system high-grade neuroepithelial tumor with BCL6-corepressor alteration (CNS HGNET-BCOR) is a recently identified entity characterized by internal tandem duplication (ITD) of BCOR, a core component of polycomb repressive complex (PRC) 1.1. BCOR-ITD… read more here.
Keywords: hgnet bcor; cns hgnet; bcor; stem cells ... See more keywords
BCOR loss promotes both retinoblastoma growth and susceptibility to IGF1R inhibition.
Sign Up to like & getrecommendations! Published in 2025 at "Neuro-oncology"
DOI: 10.1093/neuonc/noaf096
Abstract: BACKGROUND BCL-6 corepressor (BCOR) loss of function alterations are common in clinically aggressive retinoblastoma. The study aim was to determine if BCOR loss promotes the growth and dissemination of retinoblastoma cells, and identify the pathways… read more here.
Keywords: bcor loss; retinoblastoma; bcor; loss promotes ... See more keywords
Role of Cyclin D1 and BCOR Immunohistochemistry in Differentiating Clear Cell Sarcoma of Kidney From its Mimics
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002262
Abstract: Background and Aim: Clear cell sarcoma of kidney (CCSK) is the second most common pediatric renal malignancy, constituting ∼3% of renal tumors. Due to its morphologic diversity, the diagnosis of CCSK is often challenging. Recent… read more here.
Keywords: cyclin bcor; clear cell; bcor; sarcoma kidney ... See more keywords
High-grade Endometrial Stromal Sarcoma With a Novel ING3::BCOR Fusion
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DOI: 10.1097/pgp.0000000000001144
Abstract: High-grade endometrial stromal sarcoma (HGESS) is a rare tumor that typically occurs over a wide age range, from 14 to 71 yr, often presenting with nonspecific clinical symptoms. This tumor group displays heterogeneous tumor morphology and… read more here.
Keywords: fusion; ing3 bcor; bcor; hgess ... See more keywords
Concurrent mutations in other epigenetic modulators portend better prognosis in BCOR-mutated myelodysplastic syndrome
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DOI: 10.1136/jclinpath-2019-206132
Abstract: Introduction The role of single mutations has been extensively studied myelodysplastic syndromes (MDS), but the impact of genetic aberrations in the context of other mutations is less well understood. BCOR is an epigenetic transcriptional corepressor.… read more here.
Keywords: mutations epigenetic; epigenetic modulators; prognosis; concurrent mutations ... See more keywords
Abstract 2557: Targeting the IGF1R signaling pathway inhibits cell growth and dissemination in BCOR mutant retinoblastoma
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-2557
Abstract: Retinoblastoma is the most common intraocular cancer of childhood, with approximately 8,000 new cases each year worldwide. While survival rates are relatively high in developed countries, death can occur in up to half of children… read more here.
Keywords: growth dissemination; igf1r signaling; bcor; retinoblastoma ... See more keywords
Isocitrate Dehydrogenase-Mutant WHO Grade 4 Astrocytoma with BCOR Alteration: Case Report
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DOI: 10.1159/000548555
Abstract: Abstract Introduction: BCOR, a transcriptional regulator and component of the noncanonical polycomb repressive complex 1 (PRC1), plays an important role in tumorigenesis through transcriptional repression mediated by histone modifications. Alterations in BCOR, including nonsense, frameshift,… read more here.
Keywords: oncology; mutant grade; grade astrocytoma; bcor ... See more keywords
High-grade Endometrial Stromal Sarcoma: Morphologic and Clinical Features, the Role of Immunohistochemistry and Fluorescence in Situ Hybridization in Diagnosis.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of surgical pathology"
DOI: 10.1177/10668969221098087
Abstract: Introduction. High-grade endometrial stromal sarcomas (HGESS) are rare malignant mesenchymal tumors of the uterus with aggressive poor clinical outcome, which frequently exhibit YWHAE::NUTM2 and ZC3H7B::BCOR fusions. In this study, we aimed to investigate HGESSs with… read more here.
Keywords: high grade; grade; endometrial stromal; grade endometrial ... See more keywords