Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1778R
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TET2

NM_001127208.3:p.H1778R

Associated Papers

Allogeneic Hematopoietic Stem Cell Transplant for an Unknown Inherited Bone Marrow Failure Syndrome With a Novel Compound Heterozygous Mutation.

Okeleji O et al.

Pediatric Blood & Cancer, 2025

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Single-Cell DNA Sequencing Reveals an Evolutionary Pattern of CHIP in Transplant Eligible Multiple Myeloma Patients.

Borsi E et al.

Cells, 2024

38667272 (PubMed )
Supplement: cells-13-00657-s001.zip › cells-2905095-supplementary.pdf

Subclones with variants of uncertain clinical significance might contribute to ineffective hemopoiesis and leukemia predisposition.

Giudice V et al.

European Journal of Haematology, 2023

Metabolic liver cancer: associations of rare and common germline variants in one-carbon metabolism and DNA methylation genes.

Antwi SO et al.

Human Molecular Genetics, 2023

Extreme Gradient Boosting Tuned with Metaheuristic Algorithms for Predicting Myeloid NGS Onco-Somatic Variant Pathogenicity.

Pellegrino E et al.

Bioengineering (basel, Switzerland), 2023

37508780 (PubMed )
Supplement: bioengineering-10-00753-s001.zip › bioengineering-2428084-supplementary.xls › run24012023b_all

Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.

Pipek O et al.

International Journal of Molecular Sciences, 2023

37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

Perani A et al.

Frontiers in Oncology, 2023

36923434 (PubMed )
Supplement: DataSheet_1.zip › Data_Sheet_1 › Table_S3.xlsx › 5_Patient_22

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Wu X et al.

Bmc Cancer, 2022

35279121 (PubMed )
Supplement: 12885_2022_9347_MOESM4_ESM.xlsx › Sheet1

Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Gatua M et al.

Frontiers in Genetics, 2022

35836575 (PubMed )
Supplement: DataSheet1.xlsx › ST2

Linking the KIR phenotype with STAT3 and TET2 mutations to identify chronic lymphoproliferative disorders of NK cells.

Pastoret C et al.

Blood, 2021

Identification of two novel mutations in human acute myeloid leukemia cases.

O'Brien G et al.

Leukemia & Lymphoma, 2021

NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.

Delcourt T et al.

Cancers, 2020

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Whole-genome analysis uncovers recurrent IKZF1 inactivation and aberrant cell adhesion in blastic plasmacytoid dendritic cell neoplasm.

Bastidas Torres AN et al.

Genes, Chromosomes & Cancer, 2020

31846142 (PubMed )
Supplement: GCC-59-295-s002.xlsx › 11

Family History of Colorectal or Esophageal Cancer in Barrett's Esophagus and Potentially Explanatory Genetic Variants.

Rubenstein JH et al.

Clinical and Translational Gastroenterology, 2020

Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.

Shahid S et al.

Frontiers in Genetics, 2020

32655615 (PubMed )
Supplement: Table_3.XLSX › Sheet1

Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases.

Pivovarcikova K et al.

Histopathology, 2019

TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Bussaglia E et al.

Molecular Genetics & Genomic Medicine, 2019

31187595 (PubMed )
Supplement: MGG3-7-e00772-s004.doc

Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH).

Lobry C et al.

Experimental Hematology & Oncology, 2019

Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Dehghani M et al.

Frontiers in Molecular Biosciences, 2019

31681791 (PubMed )
Supplement: Data_Sheet_14.XLSX › _FFPE_samples

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s1.xlsx › TP_Polymorphisms

Dysfunction of the WT1-MEG3 signaling promotes AML leukemogenesis via p53-dependent and -independent pathways.

Lyu Y et al.

Leukemia, 2017

A role for TET2 in parathyroid carcinoma.

Barazeghi E et al.

Endocrine-related Cancer, 2017

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.

Altmüller J et al.

Immunogenetics, 2017

Low Ten-eleven-translocation 2 (TET2) transcript level is independent of TET2 mutation in patients with myeloid neoplasms.

Scopim-Ribeiro R et al.

Diagnostic Pathology, 2016

Reduced DNA methylation and hydroxymethylation in patients with systemic mastocytosis.

Leoni C et al.

European Journal of Haematology, 2015

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WoH

Genetic Characterization of Ten-Eleven-Translocation Methylcytosine Dioxygenase Alterations in Human Glioma.

Kraus TF et al.

Journal of Cancer, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0AD-01A.domain

TET2 overexpression in chronic lymphocytic leukemia is unrelated to the presence of TET2 variations.

Hernández-Sánchez M et al.

Biomed Research International, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Somatic alterations contributing to metastasis of a castration-resistant prostate cancer.

Nickerson ML et al.

Human Mutation, 2013

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf

TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms.

Martínez-Avilés L et al.

Annals of Hematology, 2012

The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories.

Kohlmann A et al.

Leukemia, 2011

TET2 mutation is an unfavorable prognostic factor in acute myeloid leukemia patients with intermediate-risk cytogenetics.

Chou WC et al.

Blood, 2011

TET2 mutations in childhood leukemia.

Langemeijer SM et al.

Leukemia, 2011

Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission.

Nibourel O et al.

Blood, 2010

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