Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R342*
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BCOR

NM_001123385.2:p.R342*

Associated Papers

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Variant_Calls

Thymus-like phenotype in benign lymphoepithelial neoplasms of salivary glands: clinicopathological and molecular characterization and reappraisal of relationship to non-sebaceous lymphadenoma.

Agaimy A et al.

Virchows Archiv : an International Journal of Pathology, 2025

Single-cell Transcriptional Atlas of Human Hematopoiesis Reveals Genetic and Hierarchy-Based Determinants of Aberrant AML Differentiation.

Zeng AGX et al.

Blood Cancer Discovery, 2025

40294241 (PubMed )
Supplement: bcd-24-0342_supplementary_tables_s1-s21_suppst1.xlsx › S18_-_Tapestri_CO131_Panel

Molecular classification and outcomes in pediatric aplastic anemia with myeloid neoplasm-associated gene variants.

Li D et al.

Frontiers in Pediatrics, 2025

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Unraveling the genetics of transformed splenic marginal zone lymphoma.

Grau M et al.

Blood Advances, 2023

36995085 (PubMed )
Supplement: BLOODA_ADV-2022-009415-mmc1.xlsx › ST7

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

34387894 (PubMed )
Supplement: HUMU-42-1399-s001.xlsx › Supp._Table_S1

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2b

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

X-linked BCOR-related syndrome in two male siblings.

Archer NE et al.

Clinical Dysmorphology, 2021

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

Kemps PG et al.

The Journal of Pathology. Clinical Research, 2021

32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf

Molecular subtype switching in early-stage gastric cancers with multiple occurrences.

Takaoka S et al.

Journal of Gastroenterology, 2019

Isolated Bone Marrow Non-Langerhans Cell Histiocytosis Preceding RUNX1-Mutated Acute Myeloid Leukemia: Case Report and Literature Review.

Al Mugairi A et al.

American Journal of Clinical Pathology, 2019

Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients.

Oltmann J et al.

Genes, Chromosomes & Cancer, 2018

Frequent Mutations in Natural Killer/T Cell Lymphoma.

Zhang Y et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

Ding LW et al.

Leukemia, 2017

Frequent BCOR aberrations in extranodal NK/T-Cell lymphoma, nasal type.

Dobashi A et al.

Genes, Chromosomes & Cancer, 2016

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.

Grossmann V et al.

Blood, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."