Article

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: Importance of individual functional analysis for rare ETV6 germline variants

2026-05-27

Abstract excerpt

<title>Abstract</title> <p>Germline variants in leukemia predisposition genes are increasingly detected in pediatric patients. Nevertheless, rare variants identified in diagnostic samples may be misinterpreted without variant-level functional evaluation and cautious clinical interpretation. Whole-exome sequencing was performed on 28 individuals from five kindreds in which at least two children developed acute leu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 96d45c57-ff4d-5ea7-acae-a09e19bc07b2
DOI: 10.21203/rs.3.rs-9698132/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: Importance of individual functional analysis for rare ETV6 germline variantsDOI 10.21203/rs.3.rs-9698132/v1Read

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants.Semantic proximity Read

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

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and ThrombocytopeniaSemantic proximity Read

Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.Semantic proximity Read

Enigmatic missense mutations can cause disease via creation of <i>de novo</i> nuclear export signalsSemantic proximity Read

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

Germline deletion of ETV6 in familial acute lymphoblastic leukemiaSemantic proximity Read

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.Semantic proximity Read

European standard clinical practice - Key issues for the medical care of individuals with familial leukemia.Semantic proximity Read

Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood.Semantic proximity Read

Cooperativity of IGF2BP1 and ETV6-RUNX1 in the pathogenesis of ETV6- RUNX1 positive B-Cell Acute Lymphoblastic LeukemiaSemantic proximity Read

ETV6 in hematopoiesis and leukemia predispositionSemantic proximity Read