Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.L1678P
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NOTCH1

NM_017617.5:p.L1678P

Associated Papers

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

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

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Blood, 2025

40700635 (PubMed )
Supplement: BLOOD_BLD-2025-028993-mmc2.xlsx › Supplementary_Table_11

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_7_MHC_I_binding_prediction.xlsx › Sheet3_mouse_scanned

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

40420999 (PubMed )
Supplement: HEM3-9-e70148-s005.xlsx › Hoja1

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974131 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_11

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

A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.

Marques Da Costa ME et al.

Communications Biology, 2023

37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1

CB-103: A novel CSL-NICD inhibitor for the treatment of NOTCH-driven T-cell acute lymphoblastic leukemia: A case report of complete clinical response in a patient with relapsed and refractory T-ALL.

Medinger M et al.

Ejhaem, 2022

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P et al.

Leukemia, 2022

35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1

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

Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Tran TH et al.

Blood Advances, 2022

34933343 (PubMed )
Supplement: advancesADV2021005634-suppl1.xlsx › S3_Mutation_details

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

PSEN1-selective gamma-secretase inhibition in combination with kinase or XPO-1 inhibitors effectively targets T cell acute lymphoblastic leukemia.

Govaerts I et al.

Journal of Hematology & Oncology, 2021

34167562 (PubMed )
Supplement: 13045_2021_1114_MOESM2_ESM.xlsx › Sheet1

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Lundgren S et al.

Leukemia, 2021

33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM3_ESM.xlsx › Book1

Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia.

Albertí-Servera L et al.

Blood, 2021

Ruxolitinib is effective in the treatment of a patient with refractory T-ALL.

Jaramillo S et al.

Ejhaem, 2021

Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Chang YH et al.

Scientific Reports, 2021

33436855 (PubMed )
Supplement: 41598_2020_80613_MOESM1_ESM.pdf

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc

Capture-based Next-Generation Sequencing Improves the Identification of Immunoglobulin/T-Cell Receptor Clonal Markers and Gene Mutations in Adult Acute Lymphoblastic Leukemia Patients Lacking Molecular Probes.

Cavagna R et al.

Cancers, 2020

Landscape and function of multiple mutations within individual oncogenes.

Saito Y et al.

Nature, 2020

Genetic mutational analysis of pediatric acute lymphoblastic leukemia from a single center in China using exon sequencing.

Zhang H et al.

Bmc Cancer, 2020

Mutation analysis in Korean patients with T-cell acute lymphoblastic leukemia.

Park KJ et al.

Pediatric Hematology and Oncology, 2020

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Safe targeting of T cell acute lymphoblastic leukemia by pathology-specific NOTCH inhibition.

Habets RA et al.

Science Translational Medicine, 2019

Most canine ameloblastomas harbor HRAS mutations, providing a novel large-animal model of RAS-driven cancer.

Saffari PS et al.

Oncogenesis, 2019

30741938 (PubMed )
Supplement: 41389_2019_119_MOESM2_ESM.xlsx › Table_S3

NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Kimura S et al.

Cancer Science, 2019

30387229 (PubMed )
Supplement: CAS-110-784-s012.xlsx › Sup3_Mutation

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s010.xlsx › SNV

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

Study of NOTCH1 and FBXW7 Mutations and Its Prognostic Significance in South Indian T-Cell Acute Lymphoblastic Leukemia.

Valliyammai N et al.

Journal of Pediatric Hematology/oncology, 2018

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P et al.

Blood Cancer Journal, 2017

28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts

Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Mondejar R et al.

Plos One, 2017

28505169 (PubMed )
Supplement: pone.0177524.s005.xlsx › Supplementary_table_5

Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Spinella JF et al.

Oncotarget, 2016

27602765 (PubMed )
Supplement: oncotarget-07-65485-s004.xlsx › Sheet1

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Lindqvist CM et al.

Oncotarget, 2016

27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations

A Case of T-cell Acute Lymphoblastic Leukemia Relapsed As Myeloid Acute Leukemia.

Paganin M et al.

Pediatric Blood & Cancer, 2016

Co-existence of PHF6 and NOTCH1 mutations in adult T-cell acute lymphoblastic leukemia.

Li M et al.

Oncology Letters, 2016

Genomic landscape of salivary gland tumors.

Kato S et al.

Oncotarget, 2015

26247885 (PubMed )
Supplement: oncotarget-06-25631-s002.xlsx › Sheet1

Activated Notch counteracts Ikaros tumor suppression in mouse and human T-cell acute lymphoblastic leukemia.

Witkowski MT et al.

Leukemia, 2015

Frequency and distribution of Notch mutations in tumor cell lines.

Mutvei AP et al.

Bmc Cancer, 2015

25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen

Deep sequencing and SNP array analyses of pediatric T-cell acute lymphoblastic leukemia reveal NOTCH1 mutations in minor subclones and a high incidence of uniparental isodisomies affecting CDKN2A.

Karrman K et al.

Journal of Hematology & Oncology, 2015

Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.

Hovelson DH et al.

Neoplasia (new York, N.y.), 2015

25925381 (PubMed )
Supplement: mmc1.pdf

Hedgehog pathway mutations in T-cell acute lymphoblastic leukemia.

Dagklis A et al.

Haematologica, 2015

Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation.

Mayle A et al.

Blood, 2015

The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.

Lindqvist CM et al.

Human Mutation, 2015

Gene mutation profiles and prognostic implications in Korean patients with T-lymphoblastic leukemia.

Huh HJ et al.

Annals of Hematology, 2013

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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."