Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.P80R
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PAX5

NM_016734.3:p.P80R

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Genomic Subclassification and Risk Stratification of ALL.

Østergaard A et al.

Acta Haematologica, 2026

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

In vivo CRISPR screening reveals cooperation of KMT2D and TP53 deficiencies in B-cell lymphomagenesis.

Yamaguchi K et al.

Blood Advances, 2025

40674704 (PubMed )
Supplement: BLOODA_ADV-2024-015519-mmc1.pdf

Familial Patterns in Acute Lymphoblastic Leukemia: Lessons From Three Siblings.

Khanahmad A et al.

Clinical Case Reports, 2025

Age-Driven Genetic and Epigenetic Heterogeneity in B-ALL.

Veselinova Y et al.

International Journal of Molecular Sciences, 2025

Excised DNA circles from V(D)J recombination promote relapsed leukaemia.

Gao Z et al.

Nature, 2025

40770098 (PubMed )
Supplement: 41586_2025_9372_MOESM6_ESM.xlsx › Sheet1

Modeling the PAX5P80R Mutation Reveals HIF2α Activation as a Common Feature and Therapeutic Target in B-cell Acute Lymphoblastic Leukemia.

Bayet M et al.

Cancer Research, 2025

A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicine Opportunities.

Martínez Anaya D et al.

Biomedicines, 2025

Heterogeneity of IKZF1 genomic alterations and risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia.

Wang'ondu RW et al.

Leukemia, 2025

Multipotent lineage potential in B cell acute lymphoblastic leukemia is associated with distinct cellular origins and clinical features.

Iacobucci I et al.

Nature Cancer, 2025

Molecular Profiling Reveals Novel Gene Fusions and Genetic Markers for Refined Patient Stratification in Pediatric Acute Lymphoblastic Leukemia.

Péterffy B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Overt and covert genetic causes of pediatric acute lymphoblastic leukemia.

Stoltze U et al.

Leukemia, 2025

Cyclin C promotes development and progression of B-cell acute lymphoblastic leukemia by counteracting p53-mediated stress responses.

Trifinopoulos J et al.

Haematologica, 2025

How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.

Hidalgo-Gómez G et al.

Annals of Hematology, 2025

Copy number alterations in pediatric B-cell precursor acute lymphoblastic leukemia patients and their association with patients' outcome.

Abdelfattah NE et al.

Annals of Hematology, 2025

Discovery of Cis-Regulatory Mechanisms via Non-Coding Mutations in Acute Lymphoblastic Leukemia.

Aydın E et al.

Genes, Chromosomes & Cancer, 2025

Diagnostic genomic analysis is prognostic in AYA patients with ALL treated on an MRD-stratified pediatric protocol.

Yeung DT et al.

Blood Neoplasia, 2025

Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia.

Liu T et al.

Scientific Reports, 2025

39863655 (PubMed )
Supplement: 41598_2025_86865_MOESM2_ESM.pdf

Genetic characterization of pediatric B-cell acute lymphoblastic leukemia in Argentina uncovers molecular heterogeneity and novel variants.

Sol Ruiz M et al.

Frontiers in Pharmacology, 2025

Preferential Genetic Pathways Lead to Relapses in Adult B-Cell Acute Lymphoblastic Leukemia.

Navas-Acosta J et al.

Cancers, 2024

39766099 (PubMed )
Supplement: cancers-16-04200-s001.zip › Supplementary_tables_Cancers2024.xlsx › Table_S4

Recurrent PAX5::ZCCHC7 rearrangement in B-cell acute lymphoblastic leukemia.

Li Y et al.

Annals of Hematology, 2024

Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications.

Ramírez Maldonado V et al.

Cancers, 2024

Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation.

Bettini LR et al.

Leukemia, 2024

Genomic Determinants of Outcome in Acute Lymphoblastic Leukemia.

Chang TC et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

GET: a foundation model of transcription across human cell types.

Fu X et al.

Biorxiv : the Preprint Server for Biology, 2024

IKZF1PLUS alterations contribute to outcome disparities in Hispanic/Latino children with B-lymphoblastic leukemia.

Kovach AE et al.

Pediatric Blood & Cancer, 2024

Acute Lymphoblastic Leukemia with Myeloid Mutations Is a High-Risk Disease Associated with Clonal Hematopoiesis.

Saygin C et al.

Blood Cancer Discovery, 2024

Demographics and additional haematologic cancers of patients with histiocytic/dendritic cell neoplasms.

Kemps PG et al.

Histopathology, 2024

PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.

Črepinšek K et al.

Cancers, 2024

Predictive and prognostic molecular biomarkers in lymphomas.

Iorgulescu JB et al.

Pathology, 2024

Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory.

Hu Z et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Pediatric Hematopathology in the Era of Advanced Molecular Diagnostics: What We Know and How We Can Apply the Updated Classifications.

Liu YC et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2024

IKZF1plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia.

Garcia-Solorio J et al.

Frontiers in Oncology, 2024

Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.

Kebede AM et al.

Frontiers in Oncology, 2024

39687881 (PubMed )
Supplement: Table2.xlsx › Sheet1

Clinically relevant core genes for hematologic malignancies in clinical NGS panel testing.

Song JS

Blood Research, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia.

Leongamornlert D et al.

Blood Advances, 2023

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