{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T23:02:49Z","timestamp":1771110169927,"version":"3.50.1"},"reference-count":4,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T00:00:00Z","timestamp":1728259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T00:00:00Z","timestamp":1728259200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,12]]},"abstract":"Laureano J. Kamiya and colleagues have identified two novel missense variants (Gly168Arg and Gly168Glu) in the RUNX1 gene. These variants, identified in two unrelated families with familial platelet disorder with a predisposition to acute myeloid leukaemia (FPD\/AML) phenotype, were initially classified as variants of uncertain significance (VUS). However, functional studies of RUNX1 target genes enabled their reclassification as likely pathogenic. The findings highlight Gly168 as a new mutation hotspot in RUNX1, providing important insights for genetic counselling and leukaemia monitoring. The study emphasizes the necessity for continuous updates to diagnostic guidelines and data sharing among laboratories to improve the classification and interpretation of genetic variants.<\/jats:p>\n \n Commentary on: Kamiya et\u00a0al. Two novel families with\n RUNX1<\/jats:italic>\n variants indicate glycine 168 as a new mutational hotspot: Implications for FPD\/AML diagnosis. Br J Haematol 2024; 205:\n 2327\u20102337<\/jats:ext-link>\n .\n <\/jats:p>","DOI":"10.1111\/bjh.19818","type":"journal-article","created":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T01:49:31Z","timestamp":1728352171000},"page":"2122-2124","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The importance of genetic variant cleaners: From patient to wet lab and back to clinical practice"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6741-9725","authenticated-orcid":false,"given":"Ra\u00fal","family":"Teruel\u2010Montoya","sequence":"first","affiliation":[{"name":"Servicio de Hematolog\u00eda Hospital Universitario Morales\u2010Meseguer, Centro Regional de Hemodonaci\u00f3n, IMIB\u2010Pascual Parrilla Murcia Spain"},{"name":"CIBERER\u2010ISCIII CB15\/00055 (U765) Murcia Spain"},{"name":"Universidad de Murcia Murcia Spain"},{"name":"Universidad Cat\u00f3lica San Antonio (UCAM) Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose","family":"Rivera","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda Hospital Universitario Morales\u2010Meseguer, Centro Regional de Hemodonaci\u00f3n, IMIB\u2010Pascual Parrilla Murcia Spain"},{"name":"CIBERER\u2010ISCIII CB15\/00055 (U765) Murcia Spain"},{"name":"Universidad de Murcia Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria L.","family":"Lozano","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda Hospital Universitario Morales\u2010Meseguer, Centro Regional de Hemodonaci\u00f3n, IMIB\u2010Pascual Parrilla Murcia Spain"},{"name":"CIBERER\u2010ISCIII CB15\/00055 (U765) Murcia Spain"},{"name":"Universidad de Murcia Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,7]]},"reference":[{"key":"e_1_2_2_2_1","unstructured":"KamiyaLJ BarozziS IsidoriF GaniewichD De LucaG BozziV et\u00a0al.Two novel families with RUNX1 variants indicate Glycine 168 as new mutational hotspot: implications for FPD\/AML diagnosis."},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-687830"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2019000644"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtha.2023.01.023"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19818","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/bjh.19818","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19818","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T22:11:24Z","timestamp":1771107084000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.19818"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,7]]},"references-count":4,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/bjh.19818"],"URL":"https:\/\/doi.org\/10.1111\/bjh.19818","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,7]]},"assertion":[{"value":"2024-09-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}