{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T07:54:12Z","timestamp":1786866852385,"version":"build-2736575974"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T00:00:00Z","timestamp":1703030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T00:00:00Z","timestamp":1703030400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004412","name":"T\u00fcrkiye Bilimler Akademisi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004412","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":[[2024,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Multiple myeloma (MM) is a haematological malignancy primarily affecting the elderly, with a striking male predilection and ethnic disparities in incidence. Familial predisposition to MM has long been recognized, but the genetic underpinnings remain elusive. This study aimed to investigate germline variants in Turkish families with recurrent MM cases. A total of 37\u2009MM\u2010affected families, comprising 77 individuals, were included. Targeted next\u2010generation sequencing analysis yielded no previously reported rare variants. Whole exome sequencing analysis in 11 families identified rare disease\u2010causing variants in various genes, some previously linked to familial MM and others not previously associated. Notably, genes involved in ubiquitination, V(D)J recombination and the PI3K\/AKT\/mTOR pathway were among those identified. Furthermore, a specific variant in BNIP1 (rs28199) was found in 13 patients across nine families, indicating its potential significance in MM pathogenesis. While this study sheds light on genetic variations in familial MM in Turkey, its limitations include sample size and the absence of in\u00a0vivo investigations. In conclusion, familial MM likely involves a polygenic inheritance pattern with rare, disease\u2010causing variants in various genes, emphasizing the need for international collaborative efforts to unravel the intricate genetic basis of MM and develop targeted therapies.<\/jats:p>","DOI":"10.1111\/bjh.19271","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T03:20:55Z","timestamp":1703042455000},"page":"931-938","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Germline genetic variants in Turkish familial multiple myeloma\/monoclonal gammopathy of undetermined significance cases"],"prefix":"10.1111","volume":"204","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7531-7817","authenticated-orcid":false,"given":"Erman","family":"Akkus","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Ankara University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timur","family":"Tuncal\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan Yal\u0131m","family":"Ak\u0131n","sequence":"additional","affiliation":[{"name":"Department of Hematology Ankara University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y\u0131ld\u0131z","family":"Ayd\u0131n","sequence":"additional","affiliation":[{"name":"Department of Hematology Florence Nightingale Hospitals  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevgi\u00a0Kalayo\u011flu","family":"Be\u015f\u0131\u015f\u0131k","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Hematology Istanbul University Medical Faculty  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emel","family":"G\u00fcrkan","sequence":"additional","affiliation":[{"name":"Department of Hematology Cukurova University Faculty of Medicine  Adana Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siret","family":"Ratip","sequence":"additional","affiliation":[{"name":"Department of Hematology Acibadem Healthcare Group  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015fe","family":"Saliho\u011flu","sequence":"additional","affiliation":[{"name":"Department of Hematology Istanbul University Cerrahpasa Faculty of Medicine  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Sarg\u0131n","sequence":"additional","affiliation":[{"name":"Department of Hematology Medipol University Faculty of Medicine  \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"\u00dcnal","sequence":"additional","affiliation":[{"name":"Department of Hematology Erciyes University Faculty of Medicine  Kayseri Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015feg\u00fcl","family":"Turcan","sequence":"additional","affiliation":[{"name":"Society of Cancer Fighters  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6m\u00fcr G\u00f6kmen","family":"Sevindik","sequence":"additional","affiliation":[{"name":"Department of Hematology Medipol University Faculty of Medicine  \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muzaffer","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Hematology Trakya University Faculty of Medicine  Edirne Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1797-8657","authenticated-orcid":false,"given":"Meral","family":"Beksac","sequence":"additional","affiliation":[{"name":"Department of Hematology Ankara University Faculty of Medicine  Ankara Turkey"},{"name":"Department of Hematology Ankara Liv Hospital, Istinye University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,20]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21654"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/10428199809057562"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-07-298760"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2005.11.033"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.24514"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-12-191676"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-019-0703-6"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.30777"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V95.5.1869.005k09_1869_1871"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-019-0452-6"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-017-3715-5"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007111"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-17-1900"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41408-021-00422-6"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02199-3"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.9.8.677"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clml.2023.02.007"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12101623"},{"issue":"6","key":"e_1_2_13_23_1","first-page":"518","article-title":"Erythrocytosis: genes and pathways involved in disease development","volume":"19","author":"Ga\u0161per\u0161i\u010d J","year":"2021","journal-title":"Blood Transfus"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24054906"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105709"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1021\/acsomega.3c05601"},{"issue":"11","key":"e_1_2_13_27_1","first-page":"5105","article-title":"The roles of KLHL family members in human cancers","volume":"12","author":"Ye G","year":"2022","journal-title":"Am J Cancer Res"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.14702"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S372241"},{"key":"e_1_2_13_30_1","volume-title":"GeneReviews(\u00ae)","author":"Evans DG","year":"1993"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41418-021-00890-0"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.trecan.2022.04.009"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejphar.2023.175827"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.31557\/APJCP.2023.24.9.3139"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2023.116860"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12022-023-09761-5"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241814254"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-42210-1"},{"issue":"4","key":"e_1_2_13_39_1","first-page":"340","article-title":"Pancytopenia in children caused by SAMD9\/9L mutation: 5 cases report and literature review","volume":"44","author":"Shang QW","year":"2023","journal-title":"Zhonghua Xue Ye Xue Za Zhi"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14091766"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-023-02022-8"},{"issue":"4","key":"e_1_2_13_42_1","first-page":"1397","article-title":"BNIP1 inhibits cell proliferation, migration and invasion, and promotes apoptosis by mTOR in cervical cancer cells","volume":"23","author":"Li FH","year":"2019","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2026076118"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-15-963"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2016.199"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19271","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/bjh.19271","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T21:20:07Z","timestamp":1771276807000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.19271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,20]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1111\/bjh.19271"],"URL":"https:\/\/doi.org\/10.1111\/bjh.19271","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,20]]},"assertion":[{"value":"2023-10-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}