Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.V1578del1
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NOTCH1

NM_017617.5:p.V1578del1

Associated Papers

Ovarian Sex Cord Tumor With Annular Tubules (SCTAT) Harbor Recurrent Copy Number Alterations, Including Monosomy 22.

Leader AM et al.

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

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XI148

Diagnostic Utility of Next-Generation Sequencing in Circulating Free DNA and a Comparison With Matched Tissue in Gallbladder Carcinoma.

Mishra S et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2024

Chronic Lymphocytic Leukemia IGHV Somatic Hypermutation Detection by Targeted Capture Next-Generation Sequencing.

Grants JM et al.

Clinical Chemistry, 2024

Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.

Matsuura M et al.

Bjc Reports, 2023

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.

Quinn LM et al.

Scientific Reports, 2023

Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study.

Lintao RCV et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

SB202190 Predicts BRAF-Activating Mutations in Primary Colorectal Cancer Organoids via Erk1-2 Modulation.

Costa D et al.

Cells, 2023

36831331 (PubMed )
Supplement: cells-12-00664-s001.zip › Table_S2__Cells_.xlsx › Suppl_Table2

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

In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.

Anekpuritanang T et al.

Blood Advances, 2021

34559205 (PubMed )
Supplement: advancesADV2021004983-suppl1.pdf

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s005.xlsx › SDC5

An isolated childhood myeloid sarcoma with germline MSH6 mutation-a case report.

Liu Y et al.

Translational Pediatrics, 2021

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

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS1

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

Albertí-Servera L et al.

Blood, 2021

Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.

Mohammed Almehmadi D et al.

The Gulf Journal of Oncology, 2021

Notch activation leads to loss of myoepithelial differentiation and poor outcome in solid adenoid cystic carcinoma.

Zhang Y et al.

Oral Diseases, 2020

Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.

Pillonel V et al.

Leukemia & Lymphoma, 2020

Paired genetic analysis by next-generation sequencing of lung cancer and associated idiopathic pulmonary fibrosis.

Otsubo K et al.

Cancer Science, 2020

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

Assessment of significant procedures in multigene molecular detection for breast cancer in clinical laboratories: from variant detection to targeted therapy.

Zhang R et al.

Breast Cancer (tokyo, Japan), 2020

First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia.

Seol CA et al.

Annals of Laboratory Medicine, 2020

Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Taher MM et al.

Oncology Letters, 2019

Connecting the dots between different networks: miRNAs associated with bladder cancer risk and progression.

Braicu C et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

31665050 (PubMed )
Supplement: 13046_2019_1406_MOESM9_ESM.xlsx › NGS_all_data

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

Target sequencing of cancer-related genes in early esophageal squamous neoplasia resected by endoscopic resection in Japanese patients.

Kobayashi S et al.

Oncotarget, 2018

30613367 (PubMed )
Supplement: oncotarget-09-36793-s001.pdf

Three dimensional primary cultures for selecting human breast cancers that are sensitive to the anti-tumor activity of ipatasertib or taselisib in combination with anti-microtubule cytotoxic drugs.

Orditura M et al.

Breast (edinburgh, Scotland), 2018

APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Chen TW et al.

Nature Communications, 2017

28878238 (PubMed )
Supplement: 41467_2017_493_MOESM5_ESM.xlsx › CCP_MAF_TS6

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

Novel dynamin 2 mutations in adult T-cell acute lymphoblastic leukemia.

Ge Z et al.

Oncology Letters, 2016

Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.

Ross JS et al.

Cancer, 2016

Hot spot mutations in Finnish non-small cell lung cancers.

Mäki-Nevala S et al.

Lung Cancer (amsterdam, Netherlands), 2016

Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.

Harvey NT et al.

Pathology, 2016

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

Li M et al.

Oncology Letters, 2016

Comparative genomic analysis of primary tumors and metastases in breast cancer.

Bertucci F et al.

Oncotarget, 2016

27028851 (PubMed )
Supplement: oncotarget-07-27208-s001.pdf

Genetic alterations in periprosthetic soft-tissue masses from patients with metal-on-metal hip replacement.

Sarhadi VK et al.

Mutation Research, 2015

Genomic landscape of salivary gland tumors.

Kato S et al.

Oncotarget, 2015

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

Targeted next generation sequencing of parotid gland cancer uncovers genetic heterogeneity.

Grünewald I et al.

Oncotarget, 2015

26053092 (PubMed )
Supplement: oncotarget-06-18224-s001.pdf

T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements.

Mansur MB et al.

Leukemia Research, 2010

FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non-Hodgkin lymphoma.

Park MJ et al.

British Journal of Haematology, 2009

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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."