Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R359*
Back to variants list

ETV6

NM_001987.5:p.R359*

Associated Papers

The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.

Monovich AC et al.

Advances in Experimental Medicine and Biology, 2024

Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms.

Kim HY et al.

Journal of Clinical Medicine, 2023

ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice.

Bloom M et al.

Blood Advances, 2023

The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.

Gurney M et al.

British Journal of Haematology, 2023

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA

Germline mutations among Polish patients with acute myeloid leukemia.

Bąk A et al.

Hereditary Cancer in Clinical Practice, 2021

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

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

Schwartz JR et al.

Nature Communications, 2021

Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.

Nishii R et al.

Blood, 2021

Germline ETV6 variants: not ALL created equally.

Rio-Machin A et al.

Blood, 2021

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S3

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.

Järviaho T et al.

Blood Advances, 2019

Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.

Edmonson MN et al.

Genome Research, 2019

Next-Generation Sequencing in Acute Lymphoblastic Leukemia.

Coccaro N et al.

International Journal of Molecular Sciences, 2019

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

MacFarland SP et al.

Jco Precision Oncology, 2019

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

ETV6 in hematopoiesis and leukemia predisposition.

Hock H et al.

Seminars in Hematology, 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

Why germline variations in ALL can matter.

Haferlach T

The Lancet. Oncology, 2015

Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Vuong H et al.

Genome Medicine, 2014

25360158 (PubMed )
Supplement: 13073_2014_81_MOESM1_ESM.xlsx › Table_S1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."