Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia (Q33423823)

26 July 2017

title

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia (English)

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26 July 2017

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lymphoblastic leukemia

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Sabine Topka

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Kasmintan A Schrader

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Kasmintan Schrader

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Charles G. Mullighan

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Charles Mullighan

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James Bruce Bussel

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James Bussel

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26 July 2017

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Joseph Vijai

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Kenneth Offit

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Ching-Hon Pui

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Zsofia K Stadler

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Michael F Walsh

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Lauren Jacobs

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Ann Maria

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Danylo Villano

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Pragna Gaddam

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Gang Wu

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Rose B McGee

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Emily Quinn

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Hiroto Inaba

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Christine Hartford

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Alberto Pappo

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Michael Edmonson

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Michael Y Zhang

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Polina Stepensky

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Peter Steinherz

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Anne Lincoln

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Steve M Lipkin

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Yehuda Goldgur

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Mira Harit

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Michael Weintraub

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Akiko Shimamura

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Jinghui Zhang

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James R Downing

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Kim E Nichols

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26 July 2017

publication date

23 June 2015

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26 July 2017

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26 July 2017

volume

11

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26 July 2017

issue

6

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26 July 2017

page(s)

e1005262

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Creative Commons Attribution 4.0 International

26 July 2017

copyright license

start time

23 June 2015

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

21 June 2018

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Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia

21 June 2018

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Predisposition to pediatric and hematologic cancers: a moving target

21 June 2018

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The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes.

21 June 2018

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The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

21 June 2018

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Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma.

21 June 2018

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Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

21 June 2018

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Targeting oxidative stress in embryonal rhabdomyosarcoma.

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A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

21 June 2018

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Genetic predispositions to childhood leukemia.

21 June 2018

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Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia

21 June 2018

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New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

The genomic landscape of hypodiploid acute lymphoblastic leukemia

21 June 2018

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Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing

21 June 2018

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Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data

21 June 2018

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An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

An integrated map of genetic variation from 1,092 human genomes

21 June 2018

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Genetics of familial forms of thrombocytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Novel mutations target distinct subgroups of medulloblastoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

The Pediatric Cancer Genome Project

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

ETV6 fusion genes in hematological malignancies: A review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

A novel retinoblastoma therapy from genomic and epigenetic analyses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Familial myelodysplastic syndromes: a review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

CREBBP mutations in relapsed acute lymphoblastic leukaemia

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Human phenotypes associated with GATA-1 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

SIFT: Predicting amino acid changes that affect protein function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Acute myelogenous leukemia in an adult with thrombocytopenia with absent radii syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

dbSNP: the NCBI database of genetic variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477877

ETV6 mutation in a cohort of 970 patients with hematologic malignancies

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1005262

21 January 2018

Dyskeratosis congenita

1 reference

Crossref

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1005262

Perspectives on RUNX genes: an update

21 January 2018

1 reference

12 December 2020

Mutation of CEBPA in familial acute myeloid leukemia

1 reference

12 December 2020

TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis

1 reference

12 December 2020

Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine

1 reference

12 December 2020

Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML)

1 reference

12 December 2020

Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1005262

Identifiers

DOI

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26 July 2017

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26 July 2017

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