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dc.contributor.authorYilmaz, Nafiye Karakas
dc.contributor.authorKaragin, Peren Hatice
dc.contributor.authorTerzi, Yunus Kasim
dc.contributor.authorKahyaoglu, Inci
dc.contributor.authorYilmaz, Saynur
dc.contributor.authorErkaya, Salim
dc.contributor.authorSahin, Feride Iffet
dc.date.accessioned2019-09-12T08:21:57Z
dc.date.available2019-09-12T08:21:57Z
dc.date.issued2016
dc.identifier.issn1309-0399
dc.identifier.urihttp://cms.galenos.com.tr/Uploads/Article_13491/77-82.pdf
dc.identifier.urihttp://hdl.handle.net/11727/3897
dc.description.abstractObjective: Although the association between BRCA1 and BRCA2 gene mutations and breast and ovarian cancer is known, there is insufficient data about premature ovarian insufficiency (POI). However, several studies have reported that there might be a relationship between POI and BRCA1 and BRCA2 gene mutation. Therefore, in the present study, we aimed to investigate the role of BRCA1 and BRCA2 gene mutations in the etiology of POI in a Turkish population. Material and Methods: The cohort was classified into two groups: a study group, consisting of 56 individuals diagnosed with premature ovarian insufficiency (and who were younger than 40 years of age, had an antral follicle count <3-5, and FSH levels >12 IU/I), and a control group, consisting of 45 fertile individuals. A total of 101 individuals were analyzed by next-generation sequencing to detect BRCA1 and BRCA2 gene mutations. Results: We detected four new variations (p.T1246N and p.R1835Q in BRCA1 and p.I3312V and IVS-7T>A in BRCA2) that had not been reported before. Conclusion: We did not find an association between the BRCA1 and BRCA2 gene mutations and premature ovarian insufficiency. However, larger, functional studies are needed to clarify the association.en_US
dc.language.isoengen_US
dc.relation.isversionof10.5152/jtgga.2016.16035en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPremature ovarian insufficiencyen_US
dc.subjectBRCA1en_US
dc.subjectBRCA2en_US
dc.subjectnext generation sequencingen_US
dc.subjectin vitro fertilizationen_US
dc.titleBRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiencyen_US
dc.typearticleen_US
dc.relation.journalJOURNAL OF THE TURKISH-GERMAN GYNECOLOGICAL ASSOCIATIONen_US
dc.identifier.volume17en_US
dc.identifier.issue2en_US
dc.identifier.startpage77en_US
dc.identifier.endpage82en_US
dc.identifier.wos000383256500005


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