Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Importins recognize the winged-helix fold of ETS transcription factors to mediate nuclear import.
McConville BM et al.
Biorxiv : the Preprint Server for Biology, 2026
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.
Soares-Ferreira B et al.
Npj Precision Oncology, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
The clinical utility and prognostic value of next-generation sequencing for measurable residual disease assessment in acute myeloid leukemia.
Liu Y et al.
Therapeutic Advances in Hematology, 2025
Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.
Wu Y et al.
Nature Communications, 2024
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.
Sato D et al.
Pediatric Hematology and Oncology, 2024
Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.
Rivas-Delgado A et al.
Hemasphere, 2024
Molecular Analysis of Renal/Adrenal Angiosarcomas Reveals High Frequency of Recurrent Genetic Alterations.
Argani P et al.
Genes, Chromosomes & Cancer, 2024
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.
Zhu F et al.
The Journal of International Medical Research, 2024
Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.
McConville BM et al.
Biorxiv : the Preprint Server for Biology, 2024
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Zaninetti C et al.
British Journal of Haematology, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.
Zerella JR et al.
Frontiers in Oncology, 2023
Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.
Cheng WY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Faleschini M et al.
Haematologica, 2022
Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.
Drazer MW et al.
Blood Advances, 2022
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M et al.
Leukemia, 2022
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model.
Borst S et al.
Stem Cell Reports, 2021
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.
Nishii R et al.
Blood, 2021
Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.
Lang GT et al.
Nature Communications, 2020
ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes.
Fisher MH et al.
Jci Insight, 2020
ETV6: A Candidate Gene for Predisposition to "Blend Pedigrees"? A Case Report from the NEXT-Famly Clinical Trial.
Bernardi S et al.
Case Reports in Hematology, 2020
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
ETV6-related thrombocytopenia and leukemia predisposition.
Di Paola J et al.
Blood, 2019
Prognostic significance of mutated genes in megakaryocytic disorders.
Asnafi AA et al.
Oncology Reviews, 2019
MYD88 L265P mutation and CDKN2A loss are early mutational events in primary central nervous system diffuse large B-cell lymphomas.
Nayyar N et al.
Blood Advances, 2019
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
Wong JC et al.
Jci Insight, 2018
Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.
Duployez N et al.
European Journal of Haematology, 2018
Germline ETV6 mutations and predisposition to hematological malignancies.
Feurstein S et al.
International Journal of Hematology, 2017
Familial predisposition of myeloid malignancies: biological and clinical significance of recurrent germ line mutations.
Matsui H
International Journal of Hematology, 2017
ETV6 in hematopoiesis and leukemia predisposition.
Hock H et al.
Seminars in Hematology, 2017
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Poggi M et al.
Haematologica, 2017
Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.
Maclachlan A et al.
Platelets, 2017
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Melazzini F et al.
Haematologica, 2016
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.
Moriyama T et al.
The Lancet. Oncology, 2015
ETV6 mutations define a new cancer predisposition syndrome.
Kirkpatrick G et al.
Oncotarget, 2015
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
Topka S et al.
Plos Genetics, 2015