Publication: Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey
dc.contributor.author | Bisgin, Atıl | |
dc.contributor.author | Sağ, Şebnem Özemri | |
dc.contributor.author | Doğan, Muhammet E. | |
dc.contributor.author | Yıldırım, Mahmut S. | |
dc.contributor.author | Gümüş, Aydeniz Aydın | |
dc.contributor.author | Akkuş, Nejmiye | |
dc.contributor.author | Balasar, Özgür | |
dc.contributor.author | Durmaz, Ceren D. | |
dc.contributor.author | Eröz, Recep | |
dc.contributor.author | Altiner, Şule | |
dc.contributor.author | Alemdar, Adem | |
dc.contributor.author | Aliyeva, Lamia | |
dc.contributor.author | Boğa, İbrahim | |
dc.contributor.author | Cam, Fethi S. | |
dc.contributor.author | Dorgan, Berkcan | |
dc.contributor.author | Esbah, Onur | |
dc.contributor.author | Hanta, Abdullah | |
dc.contributor.author | Mujde, Cem | |
dc.contributor.author | Örnek, Cemre | |
dc.contributor.author | Özer, Sinem | |
dc.contributor.author | Rencuzogullari, Çağla | |
dc.contributor.author | Sönmezler, Özge | |
dc.contributor.author | Bozdoğan, Sevcan Tug | |
dc.contributor.author | Dündar, Munis | |
dc.contributor.author | Temel, Şehime Gülsün | |
dc.contributor.buuauthor | ÖZEMRİ SAĞ, ŞEBNEM | |
dc.contributor.buuauthor | ALEMDAR, ADEM | |
dc.contributor.buuauthor | Aliyeva, Lamia | |
dc.contributor.buuauthor | Dorgan, Berkcan | |
dc.contributor.buuauthor | Ornek, Cemre | |
dc.contributor.buuauthor | TEMEL, ŞEHİME GÜLSÜN | |
dc.contributor.department | Sağlık Bilimleri Enstitüsü | |
dc.contributor.department | Tıbbi Genetik Ana Bilim Dalı | |
dc.contributor.orcid | 0000-0001-8061-8131 | |
dc.contributor.researcherid | AAH-8355-2021 | |
dc.contributor.researcherid | HIZ-7332-2022 | |
dc.contributor.researcherid | GNQ-9697-2022 | |
dc.contributor.researcherid | AAD-5249-2020 | |
dc.contributor.researcherid | GNQ-4763-2022 | |
dc.contributor.researcherid | AAG-8385-2021 | |
dc.date.accessioned | 2024-11-22T08:35:24Z | |
dc.date.available | 2024-11-22T08:35:24Z | |
dc.date.issued | 2022-10-01 | |
dc.description.abstract | BRCA1/2 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. | |
dc.identifier.doi | 10.1016/j.breast.2022.06.005 | |
dc.identifier.eissn | 1532-3080 | |
dc.identifier.endpage | 22 | |
dc.identifier.issn | 0960-9776 | |
dc.identifier.startpage | 15 | |
dc.identifier.uri | https://doi.org/10.1016/j.breast.2022.06.005 | |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S0960977622001138 | |
dc.identifier.uri | https://hdl.handle.net/11452/48348 | |
dc.identifier.volume | 65 | |
dc.identifier.wos | 000822522500003 | |
dc.indexed.wos | WOS.SCI | |
dc.language.iso | en | |
dc.publisher | Churchill Livingstone | |
dc.relation.journal | Breast | |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Ovarian-cancer | |
dc.subject | Breast/ovarian cancer | |
dc.subject | Mutations | |
dc.subject | Breast | |
dc.subject | Gene | |
dc.subject | Variants | |
dc.subject | Multiple | |
dc.subject | Families | |
dc.subject | Risk | |
dc.subject | Brca profiling | |
dc.subject | Brca landscape | |
dc.subject | Population study | |
dc.subject | Genomic screening | |
dc.subject | Science & technology | |
dc.subject | Life sciences & biomedicine | |
dc.subject | Oncology | |
dc.subject | Obstetrics & gynecology | |
dc.title | Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey | |
dc.type | Article | |
dspace.entity.type | Publication | |
local.contributor.department | Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Ana Bilim Dalı | |
local.contributor.department | Tıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı | |
relation.isAuthorOfPublication | df8aeae7-a31e-454f-a84a-198138a42763 | |
relation.isAuthorOfPublication | fcb34da7-4544-4efd-a6d5-db678f05258f | |
relation.isAuthorOfPublication | f513efaa-a54e-4cfa-840f-28e2fbdc001a | |
relation.isAuthorOfPublication.latestForDiscovery | df8aeae7-a31e-454f-a84a-198138a42763 |
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