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Article

An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms.

British journal of haematology - 1 Jul 2022

Rabadan Moraes Graciela, Pasquier Florence, Marzac Christophe, Deconinck Eric, Damanti Carlotta Caterina, Leroy Gwendoline, El-Khoury Mira, El Nemer Wassim, Kiladjian Jean-Jacques, Raslova Hana, Najman Albert, Vainchenker William, Marty Caroline, Bellanné-Chantelot Christine, Plo Isabelle

Abstract excerpt

Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant (EPORP488S ) in a large family diagnosed with JAK2V617F -positive polycythaemia vera (PV) or essential thrombocytosis (ET). We investigated its functional impact on JAK2V617F clonal amplification in patients and found that the variant allele fraction...

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PMID: 35355248
DOI: 10.1111/bjh.18165

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