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Article

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.

Nature genetics - 1 Oct 2015

Saliba Joseph, Saint-Martin Cécile, Di Stefano Antonio, Lenglet Gaëlle, Marty Caroline, Keren Boris, Pasquier Florence, Valle Véronique Della, Secardin Lise, Leroy Gwendoline, Mahfoudhi Emna, Grosjean Sarah, Droin Nathalie, Diop M'boyba, Dessen Philippe, Charrier Sabine, Palazzo Alberta, Merlevede Jane, Meniane Jean-Côme, Delaunay-Darivon Christine, Fuseau Pascal, Isnard Françoise, Casadevall Nicole, Solary Eric, Debili Najet, Bernard Olivier A, Raslova Hana, Najman Albert, Vainchenker William, Bellanné-Chantelot Christine, Plo Isabelle

Abstract excerpt

No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predisposes to myeloid malignancies, including MPN, frequently progressing to leukemia. Using induced pluripotent stem cells and primary cells, we demonstrate that overexpression of ATG2B and...

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Source

Identifiers

PMID: 26280900
DOI: 10.1038/ng.3380

Genes

GSKIP
CALR
JAK2
MPL
TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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