{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:34:13Z","timestamp":1790847253682,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T00:00:00Z","timestamp":1648598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007391","name":"Association pour la Recherche sur le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007391","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006364","name":"Institut National Du Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006364","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an <jats:italic>EPOR<\/jats:italic> variant (<jats:italic>EPOR<\/jats:italic><jats:sup>P488S<\/jats:sup>) in a large family diagnosed with <jats:italic>JAK2<\/jats:italic><jats:sup>V617F<\/jats:sup>\u2010positive polycythaemia vera (PV) or essential thrombocytosis (ET). We investigated its functional impact on <jats:italic>JAK2<\/jats:italic><jats:sup>V617F<\/jats:sup> clonal amplification in patients and found that the variant allele fraction (VAF) was low in PV progenitors but increase strongly in mature cells. Moreover, we observed that EPOR<jats:sup>P488S<\/jats:sup> alone induced a constitutive phosphorylation of STAT5 in cell lines or primary cells. Overall, this study points for searching inherited\u2010risk alleles affecting the JAK2\/STAT pathway in MPN.<\/jats:p>","DOI":"10.1111\/bjh.18165","type":"journal-article","created":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T04:57:49Z","timestamp":1648702669000},"page":"131-136","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["An inherited gain\u2010of\u2010function risk allele in <scp><i>EPOR<\/i><\/scp> predisposes to familial <scp><i>JAK2<\/i><sup>V617F<\/sup><\/scp> myeloproliferative neoplasms"],"prefix":"10.1111","volume":"198","author":[{"given":"Graciela","family":"Rabadan Moraes","sequence":"first","affiliation":[{"name":"INSERM, UMR1287  Villejuif France"},{"name":"Gustave Roussy  Villejuif France"},{"name":"INSERM UMR1287 Gustave Roussy, Universit\u00e9 de Paris  Villejuif France"},{"name":"Laboratoire d'Excellence GR\u2010Ex Universit\u00e9 Paris Cit\u00e9  Paris 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