Breast (Oct 2022)
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey
- Atil Bisgin,
- Sebnem Ozemri Sag,
- Muhammet E. Dogan,
- Mahmut S. Yildirim,
- Aydeniz Aydin Gumus,
- Nejmiye Akkus,
- Ozgur Balasar,
- Ceren D. Durmaz,
- Recep Eroz,
- Sule Altiner,
- Adem Alemdar,
- Lamia Aliyeva,
- Ibrahim Boga,
- Fethi S. Cam,
- Berkcan Dogan,
- Onur Esbah,
- Abdullah Hanta,
- Cem Mujde,
- Cemre Ornek,
- Sinem Ozer,
- Cagla Rencuzogullari,
- Ozge Sonmezler,
- Sevcan Tug Bozdogan,
- Munis Dundar,
- Sehime G. Temel
Affiliations
- Atil Bisgin
- Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey; Corresponding author. Cukurova University AGENTEM, Adana, Turkey.
- Sebnem Ozemri Sag
- Bursa Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
- Muhammet E. Dogan
- Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey
- Mahmut S. Yildirim
- Necmettin Erbakan University, Meram Faculty of Medicine, Department of Medical Genetics, Konya, Turkey
- Aydeniz Aydin Gumus
- Manisa Celal Bayar University, Faculty of Medicine, Department of Medical Genetics, Manisa, Turkey
- Nejmiye Akkus
- Health Sciences University, Kocaeli Derince Training and Research Hospital, Department of Medical Genetics, Kocaeli, Turkey
- Ozgur Balasar
- Health Sciences University, Konya City Hospital, Department of Medical Genetics, Konya, Turkey
- Ceren D. Durmaz
- 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
- Recep Eroz
- Duzce University, Faculty of Medicine, Department of Medical Genetics, Duzce, Turkey
- Sule Altiner
- 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
- Adem Alemdar
- Bursa Uludag University, Institute of Health Sciences, Department of Translational Medicine, Bursa, Turkey
- Lamia Aliyeva
- Bursa Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
- Ibrahim Boga
- Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey
- Fethi S. Cam
- Manisa Celal Bayar University, Faculty of Medicine, Department of Medical Genetics, Manisa, Turkey
- Berkcan Dogan
- 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
- Onur Esbah
- Duzce University, Faculty of Medicine, Department of Medical Oncology, Duzce, Turkey
- Abdullah Hanta
- Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey
- Cem Mujde
- Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey
- Cemre Ornek
- Bursa Uludag University, Institute of Health Sciences, Department of Translational Medicine, Bursa, Turkey
- Sinem Ozer
- InfoGenom, Cukurova Technopolis, Adana, Turkey
- Cagla Rencuzogullari
- Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey; InfoGenom, Cukurova Technopolis, Adana, Turkey
- Ozge Sonmezler
- Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey
- Sevcan Tug Bozdogan
- Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty, Adana, Turkey
- Munis Dundar
- Erciyes University, Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey
- Sehime G. Temel
- 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
- Journal volume & issue
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Vol. 65
pp. 15 – 22
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.
