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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin, Atil; Sag, Sebnem Ozemri; Dogan, Muhammet E; Yildirim, Mahmut S; Gumus, Aydeniz Aydin; Akkus, Nejmiye; Balasar, Ozgur; Durmaz, Ceren D; Eroz, Recep; Altiner, Sule; Alemdar, Adem; Aliyeva, Lamia; Boga, Ibrahim; Cam, Fethi S; Dogan, Berkcan; Esbah, Onur; Hanta, Abdullah; Mujde, Cem; Ornek, Cemre; Ozer, Sinem; Rencuzogullari, Cagla; Sonmezler, Ozge; Bozdogan, Sevcan Tug; Dundar, Munis; Temel, Sehime G.
Afiliação
  • Bisgin A; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey. Electronic address: abisgin@yahoo.com.
  • Sag SO; Bursa Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey.
  • Dogan ME; Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey.
  • Yildirim MS; Necmettin Erbakan University, Meram Faculty of Medicine, Department of Medical Genetics, Konya, Turkey.
  • Gumus AA; Manisa Celal Bayar University, Faculty of Medicine, Department of Medical Genetics, Manisa, Turkey.
  • Akkus N; Health Sciences University, Kocaeli Derince Training and Research Hospital, Department of Medical Genetics, Kocaeli, Turkey.
  • Balasar O; Health Sciences University, Konya City Hospital, Department of Medical Genetics, Konya, Turkey.
  • Durmaz CD; Health Sciences University, Gazi Yasargil Training and Research Hospital, Department of Medical Genetics, Diyarbakir, Turkey; Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
  • Eroz R; Duzce University, Faculty of Medicine, Department of Medical Genetics, Duzce, Turkey.
  • Altiner S; Health Sciences University, Kanuni Training and Research Hospital, Department of Medical Genetics, Trabzon, Turkey; Ankara University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
  • Alemdar A; Bursa Uludag University, Institute of Health Sciences, Department of Translational Medicine, Bursa, Turkey.
  • Aliyeva L; Bursa Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey.
  • Boga I; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey.
  • Cam FS; Manisa Celal Bayar University, Faculty of Medicine, Department of Medical Genetics, Manisa, Turkey.
  • Dogan B; Bursa Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey; Bursa Uludag University, Institute of Health Sciences, Department of Translational Medicine, Bursa, Turkey.
  • Esbah O; Duzce University, Faculty of Medicine, Department of Medical Oncology, Duzce, Turkey.
  • Hanta A; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey.
  • Mujde C; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey.
  • Ornek C; Bursa Uludag University, Institute of Health Sciences, Department of Translational Medicine, Bursa, Turkey.
  • Ozer S; InfoGenom, Cukurova Technopolis, Adana, Turkey.
  • Rencuzogullari C; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey.
  • Sonmezler O; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey.
  • Bozdogan ST; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey.
  • Dundar M; Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey.
  • Temel SG; Bursa Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey; Bursa Uludag University, Institute of Health Sciences, Department of Translational Medicine, Bursa, Turkey.
Breast ; 65: 15-22, 2022 Oct.
Article em En | MEDLINE | ID: mdl-35753294
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Neoplasias da Mama Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Breast Assunto da revista: ENDOCRINOLOGIA / NEOPLASIAS Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Neoplasias da Mama Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Breast Assunto da revista: ENDOCRINOLOGIA / NEOPLASIAS Ano de publicação: 2022 Tipo de documento: Article