Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Sign Up to like & getrecommendations! Published in 2018 at "Human Genetics"
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
MODL-04. MODELING CNS HGNET-BCOR PATHOGENESIS USING NEURAL STEM CELLS
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-Oncology"
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
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
Concurrent mutations in other epigenetic modulators portend better prognosis in BCOR-mutated myelodysplastic syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Pathology"
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
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
Spectrum of Histopathological, Immunohistochemical, Molecular and Radiological Features in 12 Cases of BCOR::CCNB3-positive Sarcomas With Literature Review.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of surgical pathology"
DOI: 10.1177/10668969221143467
Abstract: Introduction BCOR::CCNB3-positive undifferentiated sarcomas are rare. Herein, we present clinicopathological features including immunohistochemical and molecular data, along with the radiological profile of 12 such tumors. Methods Tumors were tested for BCOR::CCNB3 fusion by reverse transcription… read more here.
Keywords: immunohistochemical molecular; positive sarcomas; ccnb3 positive; bcor ... See more keywords
Clear Cell Sarcoma of the Kidney (CCSK) With BCOR-CCNB3 Fusion: A Rare Case Report With a Brief Review of the Literature
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric and Developmental Pathology"
DOI: 10.1177/10935266221124377
Abstract: Pediatric renal tumors are a rare entity and majority of these tumors are accounted for by Wilms tumor. The second most common renal tumor is clear cell sarcoma of the kidney (CSSK). Most of the… read more here.
Keywords: fusion; sarcoma kidney; cell sarcoma; bcor ... See more keywords
Engineered Bcor Mutations Lead to Acute Lymphoblastic Leukemia of Progenitor B-1 Lymphocyte Origin in a Sensitized Background
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-115388
Abstract: Chromosomal translocations resulting in NUP98 fusion genes have been associated with a wide spectrum of hematologic malignancies, including MDS, AML, T-ALL, and B cell precursor (BCP) ALL. Based on gene expression profiles and murine transplantation… read more here.
Keywords: bcor; bcp; acute lymphoblastic; progenitor ... See more keywords
BCOR gene alterations in hematological diseases.
Sign Up to like & getrecommendations! Published in 2021 at "Blood"
DOI: 10.1182/blood.2021010958
Abstract: The BCL6 co-repressor (BCOR) is a transcription factor involved in the control of embryogenesis, mesenchymal stem cells function, hematopoiesis and lymphoid development. Recurrent somatic clonal mutations of the BCOR gene and its homologue BCORL1 have… read more here.
Keywords: bcor gene; gene alterations; bcor; alterations hematological ... See more keywords
Dynamics of epigenetic regulator gene BCOR mutation and response predictive value for hypomethylating agents in patients with myelodysplastic syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Epigenetics"
DOI: 10.1186/s13148-021-01157-8
Abstract: Background BCOR (BCL6 corepressor) is an epigenetic regulator gene involved in the specification of cell differentiation and body structure development. Recurrent somatic BCOR mutations have been identified in myelodysplastic syndrome (MDS). However, the clinical impact… read more here.
Keywords: response; bcor mut; mut patients; bcor patients ... See more keywords