Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.P2514delFs
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NOTCH1

NM_017617.5:p.P2514delFs

Associated Papers

NOTCH1 and SF3B1 mutations in chronic lymphocytic leukemia with their clinical associations.

Ahmed VR et al.

Leukemia & Lymphoma, 2026

Chronic lymphocytic leukemia with IGH/BCL2 fusion and clonal heterogeneity: phenotypic and molecular profiling analysis of a rare case.

Zhang T et al.

Annals of Hematology, 2026

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1

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

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Eldomery MK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41332868 (PubMed )
Supplement: media-6.xlsx › Sheet1

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

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › MCV_cohort

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc9.xlsx › Sheet1

Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia.

Black GS et al.

Genome Research, 2025

39965935 (PubMed )
Supplement: Supplemental_Table_S4.xlsx › Sheet1

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.

Sabatini PJB et al.

Journal of Clinical Pathology, 2025

38182402 (PubMed )
Supplement: jcp-78-3-s002.xlsx › Supplementary_Table_2

Prognostic and predictive impact of NOTCH1 mutations in patients with chronic lymphocytic leukemia: a tertiary single-center experience.

D'Antiga M et al.

Frontiers in Oncology, 2025

From regulation to deregulation of p53 in hematologic malignancies: implications for diagnosis, prognosis and therapy.

Ahmadi SE et al.

Biomarker Research, 2024

Unveiling the dynamics and molecular landscape of a rare chronic lymphocytic leukemia subpopulation driving refractoriness: insights from single-cell RNA sequencing.

Kurucova T et al.

Molecular Oncology, 2024

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.

Özoğul E et al.

Blood Cancer Journal, 2024

39313500 (PubMed )
Supplement: 41408_2024_1146_MOESM2_ESM.xlsx › S10

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S5

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

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Genetic and Clinical Characteristics of Korean Chronic Lymphocytic Leukemia Patients with High Frequencies of MYD88 Mutations.

Ahn A et al.

International Journal of Molecular Sciences, 2023

36834590 (PubMed )
Supplement: ijms-24-03177-s001.zip › IJMS_CLL_Supplemental_Table_S2.xlsx › Mutation_lists

Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Mancikova V et al.

Molecular Oncology, 2023

36334078 (PubMed )
Supplement: MOL2-17-82-s003.pdf

T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations.

Vlachonikola E et al.

Frontiers in Oncology, 2023

Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study.

Haider Z et al.

Frontiers in Oncology, 2023

37333831 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Clonally unrelated Richter syndrome are truly de novo diffuse large B-cell lymphomas with a mutational profile reminiscent of clonally related Richter syndrome.

Favini C et al.

British Journal of Haematology, 2022

35829664 (PubMed )
Supplement: BJH-198-1016-s001.xlsx › Table_S4

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1

Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Nkosi D et al.

Genes, 2022

35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.pdf

Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.

Thompson ER et al.

Blood Advances, 2022

34861696 (PubMed )
Supplement: advancesADV2021006211-suppl1.pdf

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

NOTCH1 Signalling: A key pathway for the development of high-risk chronic lymphocytic leukaemia.

Edelmann J

Frontiers in Oncology, 2022

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

Case report: Chronic lymphocytic leukemia/small lymphocytic lymphoma and monomorphic epitheliotropic intestinal T-cell lymphoma: A composite lymphoma.

Zhang B et al.

Pathology Oncology Research : Por, 2022

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

Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Bastos-Oreiro M et al.

Scientific Reports, 2021

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma.

Moia R et al.

British Journal of Haematology, 2021

34291829 (PubMed )
Supplement: BJH-195-108-s003.xlsx › Table_S2

Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.

Yamagishi M et al.

Nature Communications, 2021

34376672 (PubMed )
Supplement: 41467_2021_25101_MOESM6_ESM.xlsx › Sup_Data_4
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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."