Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G645fs
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ASXL1

NM_015338.6:p.G645fs

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Wegert J et al.

Genome Medicine, 2025

40340749 (PubMed )
Supplement: 13073_2025_1482_MOESM1_ESM.xlsx › Table_S2

Wilms tumor primary cultures capture phenotypic heterogeneity and facilitate preclinical screening.

Götz L et al.

Translational Oncology, 2025

39740515 (PubMed )
Supplement: mmc6.xlsx › Wilms_tumor_cultures

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.

Köhnke T et al.

Blood Cancer Discovery, 2024

38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_tables_1-5_suppst1.xlsx › Supplementary_Table_1

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.

Chong AL et al.

The American Journal of Surgical Pathology, 2024

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Adult Wilms Tumor: Genetic Evidence of Origin of a Subset of Cases From Metanephric Adenoma.

Argani P et al.

The American Journal of Surgical Pathology, 2022

A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation.

Kethireddy N et al.

Journal of Clinical Medicine, 2022

Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.

Luchini C et al.

Virchows Archiv : an International Journal of Pathology, 2022

Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Lee BCH et al.

Nature Communications, 2022

35581206 (PubMed )
Supplement: 41467_2022_29920_MOESM3_ESM.xlsx › SD7

Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.

Nardi V et al.

Archives of Pathology & Laboratory Medicine, 2022

Genetic and Transcriptional Contributions to Relapse in Normal Karyotype Acute Myeloid Leukemia.

Petti AA et al.

Blood Cancer Discovery, 2022

Case Report: Complete Response to Antiangiogenesis and Immune Checkpoint Blockade in an Unresectable MMR-Deficient Leiomyosarcoma Harboring Biallelic Loss of PTEN.

Guo X et al.

Frontiers in Oncology, 2022

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

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

Risk factors affect accurate prognosis in ASXL1-mutated acute myeloid leukemia.

Fan Y et al.

Cancer Cell International, 2021

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Epigenetic targeted therapy of stabilized BAP1 in ASXL1 gain-of-function mutated leukemia.

Wang L et al.

Nature Cancer, 2021

Cutaneous Squamous Cell Carcinoma in Lynch Syndrome - An Overlooked Association.

Moorthy V et al.

Cureus, 2021

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Schwartz JR et al.

Nature Communications, 2021

33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM24_ESM.xlsx › Sup._Data_21_Serial_Sequencing

Mastocytosis.

Tzankov A et al.

American Journal of Clinical Pathology, 2021

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

A rare atypical chronic myeloid leukemia BCR-ABL1 negative with concomitant JAK2 V617F and SETBP1 mutations: a case report and literature review.

Gao T et al.

Therapeutic Advances in Hematology, 2020

High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors.

Ji S et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM8_ESM.xlsx › TAML-TMDS

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era.

Montes-Moreno S et al.

Plos One, 2018

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Carlston CM et al.

Human Mutation, 2017

Impact of genomic profiling on the treatment and outcomes of patients with advanced gastrointestinal malignancies.

Dhir M et al.

Cancer Medicine, 2017

28028924 (PubMed )
Supplement: CAM4-6-195-s001.xlsx › Sheet1

Quantifying ultra-rare pre-leukemic clones via targeted error-corrected sequencing.

Young AL et al.

Leukemia, 2015

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Wong TN et al.

Nature, 2015

25487151 (PubMed )
Supplement: NIHMS635306-supplement-5.xlsx › taml.extension.all.tier1.2013.0

CEA/CD3 bispecific antibody MEDI-565/AMG 211 activation of T cells and subsequent killing of human tumors is independent of mutations commonly found in colorectal adenocarcinomas.

Oberst MD et al.

Mabs, 2014

25484061 (PubMed )
Supplement: kmab-06-06-975660-s001.zip › Supplementary_Figure_2.pdf

Nuclear/cytoplasmic localization of the multiple endocrine neoplasia type 1 gene product, menin.

Huang SC et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 1999

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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."