{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T01:52:36Z","timestamp":1768009956379,"version":"3.49.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Leukemia"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1038\/s41375-025-02802-4","type":"journal-article","created":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T13:32:53Z","timestamp":1763472773000},"page":"235-240","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases"],"prefix":"10.1038","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4869-8925","authenticated-orcid":false,"given":"Maroulio","family":"Pertesi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Demangel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhishek","family":"Niroula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emeline","family":"Perrial","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7872-9865","authenticated-orcid":false,"given":"Maria Laura","family":"Mahecha Escobar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3616-9508","authenticated-orcid":false,"given":"Maxime","family":"Vall\u00e9e","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Liacos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9978-5682","authenticated-orcid":false,"given":"Mehmet K.","family":"Samur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9369-4413","authenticated-orcid":false,"given":"Adam S.","family":"Sperling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7344-9795","authenticated-orcid":false,"given":"Nikhil C.","family":"Munshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Efstathios","family":"Kastritis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8990-3254","authenticated-orcid":false,"given":"Meletios A.","family":"Dimopoulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James D.","family":"McKay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulf-Henrik","family":"Mellqvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7715-4548","authenticated-orcid":false,"given":"Markus","family":"Hansson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Dumontet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"On behalf of the Intergroupe Francophone du My\u00e9lome (IFM)","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5542-0254","authenticated-orcid":false,"given":"Bj\u00f6rn","family":"Nilsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,18]]},"reference":[{"key":"2802_CR1","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1038\/s41375-019-0703-6","volume":"34","author":"M Pertesi","year":"2020","unstructured":"Pertesi M, Went M, Hansson M, Hemminki K, Houlston RS, Nilsson B. Genetic predisposition for multiple myeloma. Leukemia. 2020;34:697\u2013708.","journal-title":"Leukemia"},{"key":"2802_CR2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-50932-7","volume":"15","author":"M Went","year":"2024","unstructured":"Went M, Duran-Lozano L, Halldorsson GH, Gunnell A, Ugidos-Damboriena N, Law P, et al. Deciphering the genetics and mechanisms of predisposition to multiple myeloma. Nat Commun. 2024;15:6644.","journal-title":"Nat Commun"},{"key":"2802_CR3","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1002\/jha2.557","volume":"3","author":"M Hakkarainen","year":"2022","unstructured":"Hakkarainen M, Koski JR, Heckman CA, Anttila P, Silvennoinen R, Lievonen J, et al. A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families. EJHaem. 2022;3:1352\u20137.","journal-title":"EJHaem"},{"key":"2802_CR4","doi-asserted-by":"publisher","DOI":"10.1038\/s41408-021-00422-6","volume":"11","author":"C Catalano","year":"2021","unstructured":"Catalano C, Paramasivam N, Blocka J, Giangiobbe S, Huhn S, Schlesner M, et al. Characterization of rare germline variants in familial multiple myeloma. Blood Cancer J. 2021;11:33.","journal-title":"Blood Cancer J"},{"key":"2802_CR5","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1158\/2643-3230.BCD-23-0208","volume":"5","author":"S Thibaud","year":"2024","unstructured":"Thibaud S, Subaran RL, Newman S, Lagana A, Melnekoff DT, Bodnar S, et al. Multiple myeloma risk and outcomes are associated with pathogenic germline variants in DNA repair genes. Blood Cancer Discov. 2024;5:428\u201341.","journal-title":"Blood Cancer Discov"},{"key":"2802_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2024.111620","volume":"28","author":"F Martins Rodrigues","year":"2025","unstructured":"Martins Rodrigues F, Jasielec J, Perpich M, Kim A, Moma L, Li Y, et al. Germline predisposition in multiple myeloma. iScience. 2025;28:111620.","journal-title":"iScience"},{"key":"2802_CR7","doi-asserted-by":"crossref","unstructured":"Mukhtar TK, Wilcox N, Dennis J, Yang X, Naven M, Mavaddat N, et al. Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data. J Med Genet 2024;61:1016\u201322.","DOI":"10.1136\/jmg-2024-110127"},{"key":"2802_CR8","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1016\/j.ajhg.2018.08.016","volume":"103","author":"MH Guo","year":"2018","unstructured":"Guo MH, Plummer L, Chan Y-M, Hirschhorn JN, Lippincott MF. Burden testing of rare variants identified through exome sequencing via publicly available control data. Am J Hum Genet. 2018;103:522\u201334.","journal-title":"Am J Hum Genet"},{"key":"2802_CR9","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/S0002-9440(10)63672-3","volume":"163","author":"J Starczynski","year":"2003","unstructured":"Starczynski J, Simmons W, Flavell JR, Byrd PJ, Stewart GS, Kullar HS, et al. Variations in ATM protein expression during normal lymphoid differentiation and among B-cell-derived neoplasias. Am J Pathol. 2003;163:423\u201332.","journal-title":"Am J Pathol"},{"key":"2802_CR10","doi-asserted-by":"crossref","unstructured":"Walker BA, Mavrommatis K, Wardell CP, Ashby TC, Bauer M, Davies FE, et al. Identification of novel mutational drivers reveals oncogene dependencies in multiple myeloma. Blood 2018;132:587\u201397.","DOI":"10.1182\/blood-2018-08-870022"},{"key":"2802_CR11","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1093\/jnci\/dji141","volume":"97","author":"D Thompson","year":"2005","unstructured":"Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. JNCI J Natl Cancer Inst. 2005;97:813\u201322.","journal-title":"JNCI J Natl Cancer Inst"},{"key":"2802_CR12","doi-asserted-by":"crossref","unstructured":"Hostettler IC, O\u2019Callaghan B, Bugiardini E, O\u2019Connor E, Vandrovcova J, Davagnanam I, et al. ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms. Neurology 2021;96:e947\u2013e955.","DOI":"10.1212\/WNL.0000000000011125"},{"key":"2802_CR13","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.ajhg.2017.12.006","volume":"102","author":"R Bourcier","year":"2018","unstructured":"Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chr\u00e9tien S, et al. Rare coding variants in ANGPTL6 are associated with familial forms of intracranial aneurysm. Am J Hum Genet. 2018;102:133\u201341.","journal-title":"Am J Hum Genet"},{"key":"2802_CR14","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1007\/s12307-011-0072-9","volume":"4","author":"N Giuliani","year":"2011","unstructured":"Giuliani N, Storti P, Bolzoni M, Palma BD, Bonomini S. Angiogenesis and multiple myeloma. Cancer Microenviron Off J Int Cancer Microenviron Soc. 2011;4:325\u201337.","journal-title":"Cancer Microenviron Off J Int Cancer Microenviron Soc"},{"key":"2802_CR15","doi-asserted-by":"publisher","first-page":"5262","DOI":"10.3390\/ijms24065262","volume":"24","author":"S Yu","year":"2023","unstructured":"Yu S, Liang Z, Fan Z, Cao B, Wang N, Wu R, et al. A comprehensive analysis revealing FBXW9 as a potential prognostic and immunological biomarker in breast cancer. Int J Mol Sci. 2023;24:5262.","journal-title":"Int J Mol Sci"}],"container-title":["Leukemia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41375-025-02802-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41375-025-02802-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41375-025-02802-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T19:03:04Z","timestamp":1767985384000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41375-025-02802-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,18]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["2802"],"URL":"https:\/\/doi.org\/10.1038\/s41375-025-02802-4","relation":{},"ISSN":["0887-6924","1476-5551"],"issn-type":[{"value":"0887-6924","type":"print"},{"value":"1476-5551","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,18]]},"assertion":[{"value":"30 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 September 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 October 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 November 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 November 2025","order":6,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Update","order":7,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"In the originally published version, the affiliation for author Maria Laura Mahecha Escobar was incorrectly listed as: (2) Hospices Civils de Lyon, Lyon, France. This has now been corrected to: (1) Department of Laboratory Medicine, Division of Hematology, Lund University, Lund, Sweden.","order":8,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"M.A.D. received honoraria from participation in advisory boards and satellite symposia from Amgen, Sanofi, Regeneron, Menarini, Takeda, GSK, BMS, Janssen, Beigene, Swixx and Astra Zeneca. The remaining authors declare no conflicts of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study was conducted in accordance with the principles of the Declaration of Helsinki with ethical approval from Comit\u00e9 de Protection des Personnes Sud Est IV, Lund University Ethical Review Board-2013\/54, and the Institutional Scientific\/Ethics Committee of \u201cAlexandra\u201d Hospital. All samples were collected with informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}