Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

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dc.contributor.authorBisgin, Atil
dc.contributor.authorSag, Sebnem Ozemri
dc.contributor.authorDogan, Muhammet E.
dc.contributor.authorYildirim, Mahmut S.
dc.contributor.authorGumus, Aydeniz Aydin
dc.contributor.authorAkkus, Nejmiye
dc.contributor.authorBalasar, Ozgur
dc.date.accessioned2024-02-23T14:02:22Z
dc.date.available2024-02-23T14:02:22Z
dc.date.issued2022
dc.departmentNEÜen_US
dc.description.abstractBRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyzed germline variants of BRCA1/2 genes for 2168 individuals who had cancer diagnosis or high risk assessment due to BRCAs related cancers, referred to 10 health care centers distributed across 7 regions covering the Turkish landscape. Overall, 68 and 157 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-two novel variants were reported from both genes while BRCA2 showed higher mutational heterogeneity. We herein report the collective data as BRCA Turkish consortium that confirm the molecular heterogeneity in BRCAs among Turkish population, and also as the first study presenting the both geographical, demographical and gene based landscape of all recurrent and novel mutations which some might be a founder effect in comparison to global databases. This wider perspective leads to the most accurate variant interpretations which pave the way for the more precise and efficient management affecting the clinical and molecular aspects.en_US
dc.identifier.doi10.1016/j.breast.2022.06.005
dc.identifier.endpage22en_US
dc.identifier.issn0960-9776
dc.identifier.issn1532-3080
dc.identifier.pmid35753294en_US
dc.identifier.scopus2-s2.0-85132732093en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage15en_US
dc.identifier.urihttps://doi.org/10.1016/j.breast.2022.06.005
dc.identifier.urihttps://hdl.handle.net/20.500.12452/11675
dc.identifier.volume65en_US
dc.identifier.wosWOS:000822522500003en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherChurchill Livingstoneen_US
dc.relation.ispartofBreasten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBrca Profilingen_US
dc.subjectBrca Landscapeen_US
dc.subjectPopulation Studyen_US
dc.subjectGenomic Screeningen_US
dc.titleGermline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkeyen_US
dc.typeArticleen_US

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