Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.R2400*
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NOTCH2

NM_024408.4:p.R2400*

Associated Papers

Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.

Khouja M et al.

Leukemia, 2026

41184633 (PubMed )
Supplement: 41375_2025_2787_MOESM2_ESM.xlsx › Table_S5

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 › Reference_Standard

IGL::CCND1 detected by optical genome mapping revises diagnosis of a B-cell lymphoma.

Chakraborty SR et al.

American Journal of Clinical Pathology, 2025

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Berg V et al.

Leukemia, 2025

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1

Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.

Rivas-Delgado A et al.

Hemasphere, 2024

39380845 (PubMed )
Supplement: HEM3-8-e70024-s001.xlsx › ST7

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Identification of genetic subtypes in follicular lymphoma.

Shelton V et al.

Blood Cancer Journal, 2024

39112453 (PubMed )
Supplement: 41408_2024_1111_MOESM2_ESM.xlsx › ST5_-_mutations

Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics.

Cao B et al.

Bmc Medical Genomics, 2024

38609996 (PubMed )
Supplement: 12920_2024_1866_MOESM1_ESM.pdf

The genomic and molecular landscape of splenic marginal zone lymphoma, biological and clinical implications.

Mirandari A et al.

Exploration of Targeted Anti-tumor Therapy, 2024

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

NOTCH2 gene mutation and gamma-secretase inhibitor in mediating the malignancy of ovarian cancer.

Wang W et al.

Aging, 2023

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

NOTCH Signaling in Mantle Cell Lymphoma: Biological and Clinical Implications.

Deshotels L et al.

International Journal of Molecular Sciences, 2023

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Ekure EN et al.

American Journal of Medical Genetics. Part A, 2023

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers.

Böck J et al.

Frontiers in Oncology, 2023

37664054 (PubMed )
Supplement: Table_1.xlsx › Table_S2

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Safa F et al.

Ejhaem, 2022

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.

Tan EC et al.

American Journal of Medical Genetics. Part A, 2022

Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer.

Burton KA et al.

Jco Precision Oncology, 2022

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM21_ESM.xlsx › Supplementary_Table_8

IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Li Q et al.

Frontiers in Oncology, 2022

35720006 (PubMed )
Supplement: Table_2.xlsx › Sheet1

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_3

Cell-Free Total Nucleic Acid-Based Genotyping of Aggressive Lymphoma: Comprehensive Analysis of Gene Fusions and Nucleotide Variants by Next-Generation Sequencing.

Mokánszki A et al.

Cancers, 2021

Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma.

Garcia-Reyero J et al.

Haematologica, 2021

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.

Ekure EN et al.

Circulation. Genomic and Precision Medicine, 2021

Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.

Ahmed S et al.

Annals of Medicine and Surgery (2012), 2021

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

Notch activation is pervasive in SMZL and uncommon in DLBCL: implications for Notch signaling in B-cell tumors.

Shanmugam V et al.

Blood Advances, 2021

Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.

Jeong S et al.

Scientific Reports, 2020

32770099 (PubMed )
Supplement: 41598_2020_70310_MOESM1_ESM.pdf

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Bertucci F et al.

Molecular Oncology, 2020

31854063 (PubMed )
Supplement: MOL2-14-504-s010.xlsx › TableS3

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C et al.

Scientific Reports, 2019

31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Phenotype variability in Hajdu-Cheney syndrome.

Regev M et al.

European Journal of Medical Genetics, 2019

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.

Zhou Y et al.

Neoplasia (new York, N.y.), 2018

30227305 (PubMed )
Supplement: mmc1.xlsx › Supplementary_6

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Pittaway JFH et al.

Orphanet Journal of Rare Diseases, 2018

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.

Fukushima H et al.

Molecular Cell, 2017

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5a

The developmental biology of genetic Notch disorders.

Mašek J et al.

Development (cambridge, England), 2017

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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."