Germline genetic variants in Turkish familial multiple myeloma/monoclonal gammopathy of undetermined significance cases

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dc.authoridBeksac, Meral/0000-0003-1797-8657
dc.authoridAkin, H. Yalim/0000-0002-2461-9479;
dc.authorwosidBeksac, Meral/D-6411-2013
dc.authorwosidSalihoglu, Ayse/Y-8937-2018
dc.authorwosidAkkus, Erman/ADT-1337-2022
dc.authorwosidAkin, H. Yalim/IAS-0693-2023
dc.authorwosidÜnal, Ali/F-9276-2013
dc.contributor.authorAkkus, Erman
dc.contributor.authorTuncali, Timur
dc.contributor.authorAkin, Hasan Yalim
dc.contributor.authorAydin, Yildiz
dc.contributor.authorBesisik, Sevgi Kalayoglu
dc.contributor.authorGurkan, Emel
dc.contributor.authorRatip, Siret
dc.date.accessioned2024-05-19T14:41:26Z
dc.date.available2024-05-19T14:41:26Z
dc.date.issued2024
dc.departmentİstinye Üniversitesien_US
dc.description.abstractMultiple 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 MM-affected families, comprising 77 individuals, were included. Targeted next-generation sequencing analysis yielded no previously reported rare variants. Whole exome sequencing analysis in 11 families identified rare disease-causing 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 vivo investigations. In conclusion, familial MM likely involves a polygenic inheritance pattern with rare, disease-causing variants in various genes, emphasizing the need for international collaborative efforts to unravel the intricate genetic basis of MM and develop targeted therapies. Germline variants observed among familial cases of myeloma.imageen_US
dc.description.sponsorshipTrkiye Bilimler Akademisi; Turkish Academy of Sciencesen_US
dc.description.sponsorshipThe data presented here are based on the Internal Medicine research thesis of EA, MB has received research grant support from Turkish Academy of Sciences.en_US
dc.identifier.doi10.1111/bjh.19271
dc.identifier.endpage938en_US
dc.identifier.issn0007-1048
dc.identifier.issn1365-2141
dc.identifier.issue3en_US
dc.identifier.pmid38115798en_US
dc.identifier.scopus2-s2.0-85180226326en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage931en_US
dc.identifier.urihttps://doi.org10.1111/bjh.19271
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5110
dc.identifier.volume204en_US
dc.identifier.wosWOS:001129434400001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofBritish Journal of Haematologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240519_kaen_US
dc.subjectFamilialen_US
dc.subjectGermline Varianten_US
dc.subjectMgusen_US
dc.subjectMultiple Myelomaen_US
dc.subjectWesen_US
dc.titleGermline genetic variants in Turkish familial multiple myeloma/monoclonal gammopathy of undetermined significance casesen_US
dc.typeArticleen_US

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