Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.

doi:10.1038/s41375-021-01319-w

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Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.

Leukemia - 1 Jan 2022

Pegliasco Jean, Hirsch Pierre, Marzac Christophe, Isnard Françoise, Meniane Jean-Côme, Deswarte Caroline, Pellet Philippe, Lemaitre Céline, Leroy Gwendoline, Rabadan Moraes Graciela, Guermouche Hélène, Schmaltz-Panneau Barbara, Pasquier Florence, Colas Chrystelle, Benusiglio Patrick R, Bera Odile, Bourhis Jean-Henri, Brissot Eolia, Caron Olivier, Chraibi Samy, Cony-Makhoul Pascale, Delaunay-Darivon Christine, Lapusan Simona, de Fontbrune Flore Sicre, Fuseau Pascal, Najman Albert, Vainchenker William, Delhommeau François, Micol Jean-Baptiste, Plo Isabelle, Bellanné-Chantelot Christine

Abstract excerpt

The germline predisposition associated with the autosomal dominant inheritance of the 14q32 duplication implicating ATG2B/GSKIP genes is characterized by a wide clinical spectrum of myeloid neoplasms. We analyzed 12 asymptomatic carriers and 52 patients aged 18-74 years from six families, by targeted sequencing of 41 genes commonly mutated in myeloid malignancies. We found that 75% of healthy carriers displayed...

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PMID: 34172895
DOI: 10.1038/s41375-021-01319-w

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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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