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1. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Author

Dundar, Munis, Fahrioglu, Umut, Yildiz, Saliha Handan, Bakir-Gungor, Burcu, Temel, Sehime Gulsun, Akin, Haluk, Artan, Sevilhan, Cora, Tulin, Sahin, Feride Iffet, Dursun, Ahmet, Sezer, Ozlem, Gurkan, Hakan, Erdogan, Murat, Gunduz, C. Nur Semerci, Bisgin, Atil, Ozdemir, Ozturk, Ulgenalp, Ayfer, Percin, E. Ferda, Yildirim, Malik Ejder, Tekes, Selahaddin, Bagis, Haydar, Yuce, Huseyin, Duman, Nilgun, Bozkurt, Gokay, Yararbas, Kanay, Yildirim, Mahmut Selman, Arman, Ahmet, Mihci, Ercan, Eraslan, Serpil, Altintas, Zuhal Mert, Aymelek, Huri Sema, Ruhi, Hatice Ilgin, Tatar, Abdulgani, Ergoren, Mahmut Cerkez, Cetin, G. Ozan, Altunoglu, Umut, Caglayan, Ahmet Okay, Yuksel, Berrin, Ozkul, Yusuf, Saatci, Cetin, Kenanoglu, Sercan, Karasu, Nilgun, Dundar, Bilge, Ozcelik, Firat, Demir, Mikail, Siniksaran, Betul Seyhan, Kulak, Hande, Kiranatlioglu, Kubra, Baysal, Kubra, Kazimli, Ulviyya, Akalin, Hilal, Dundar, Ayca, Boz, Mehmet, Bayram, Arslan, Subasioglu, Asli, Colak, Fatma Kurt, Karaduman, Neslihan, Gunes, Meltem Cerrah, Kandemir, Nefise, Aynekin, Busra, Emekli, Rabia, Sahin, Izem Olcay, Ozdemir, Sevda Yesim, Onal, Muge Gulcihan, Senel, Abdurrahman Soner, Poyrazoglu, Muammer Hakan, Kisaarslan, Ayse Nur Pac, Gursoy, Sebnem, Baskol, Mevlut, Calis, Mustafa, Demir, Huseyin, Zararsiz, Gozde Erturk, Erdogan, Mujgan Ozdemir, Elmas, Muhsin, Solak, Mustafa, Ulu, Memnune Sena, Thahir, Adam, Aydin, Zafer, Atasever, Umut, Sag, Sebnem Ozemri, Aliyeva, Lamiya, Alemdar, Adem, Dogan, Berkcan, Erguzeloglu, Cemre Ornek, Kaya, Niyazi, Ozkinay, Ferda, Cogulu, Ozgur, Durmaz, Asude, Onay, Huseyin, Karaca, Emin, Durmaz, Burak, Aykut, Ayca, Cilingir, Oguz, Aras, Beyhan Durak, Gokalp, Ebru Erzurumluoglu, Arslan, Serap, Temena, Arda, Haziyeva, Konul, Kocagil, Sinem, Bas, Hasan, Susam, Ezgi, Keklikci, Ali Riza, Sarac, Elif, Kocak, Nadir, Nergiz, Suleyman, Terzi, Yunus Kasim, Dincer, Selin Akad, Baskin, Esra Sidika, Genc, Gunes Cakmak, Bahadir, Oguzhan, Sanri, Aslihan, Yigit, Serbulent, Tozkir, Hilmi, Yalcintepe, Sinem, Ozkayin, Nese, Kiraz, Aslihan, Balta, Burhan, Gonen, Gizem Akinci, Kurt, E. Emre, Ceylan, Gulay Gulec, Ceylan, Ahmet Cevdet, Erten, Sukran, Bozdogan, Sevcan Tug, Boga, Ibrahim, Yilmaz, Mustafa, Silan, Fatma, Kocabey, Mehmet, Koc, Altug, Cankaya, Tufan, Bora, Elcin, Bozkaya, Ozlem Giray, Ercal, Derya, Ergun, Mehmet Ali, Ergun, Sezen Guntekin, Duman, Yesim Sidar, Beyazit, Serife Busra, Uzel, Veysiye Hulya, Em, Serda, Cevik, Muhammer Ozgur, Eroz, Recep, Demirtas, Mercan, Firat, Cem Koray, Kabayegit, Zehra Manav, Altan, Mustafa, Mardan, Lamiya, Sayar, Ceyhan, Tumer, Sait, Turkgenc, Burcu, Karakoyun, Hilal Keskin, Tunc, Betul, Kuru, Seda, Zamani, Aysegul, Geckinli, Bilgen Bilge, Ates, Esra Arslan, Clark, Ozden Altiok, Toylu, Asli, Coskun, Mert, Nur, Banu, Bilge, Ilmay, Bayramicli, Oya Uygur, Emmungil, Hakan, Komesli, Zeynep, Zeybel, Mujdat, Gurakan, Figen, Tasdemir, Mehmet, Kebudi, Rejin, Karabulut, Halil Gurhan, Tuncali, Timur, Kutlay, Nuket Yurur, Kahraman, Cigdem Yuce, Onder, Nerin Bahceciler, Beyitler, Ilke, Kavukcu, Salih, Tulay, Pinar, Tosun, Ozgur, Tuncel, Gulten, Mocan, Gamze, Kale, Hamdi, Uyguner, Zehra Oya, Acar, Aynur, Altinay, Mert, and Erdem, Levent

Published
2022
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2. The role of next‐generation sequencing in the examination of signaling genes in Brca1/2 ‐negative breast cancer cases

Author

Cine, Naci, primary, Ugurtas, Cansu, additional, Gokbayrak, Merve, additional, Aydin, Duygu, additional, Demir, Gulhan, additional, Kuru, Seda, additional, Sunnetci‐Akkoyunlu, Deniz, additional, Eren‐Keskin, Seda, additional, Simsek, Turgay, additional, Cabuk, Devrim, additional, Aksu, Maksut Gorkem, additional, Canturk, Nuh Zafer, additional, and Savli, Hakan, additional

Published
2022
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3. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Author

ERTEN, ŞÜKRAN, DÜNDAR, MUNİS, Altinay, Mert, Bakir-Gungor, Burcu, TEMEL, ŞEHİME GÜLSÜN, AKIN, HALUK, ARTAN, SEVİLHAN, Acar, Aynur, Cora, Tulin, ŞAHİN, FERİDE İFFET, DURSUN, AHMET, Sezer, Ozlem, GÜRKAN, HAKAN, Erdogan, Murat, Kebudi, Rejin, ÇİLİNGİR, OĞUZ, AYKUT, AYÇA, Durmaz, Burak, EMMUNGİL, HAKAN, KARACA, EMİN, Emekli, Rabia, Gonen, Gizem Akinci, Onay, Huseyin, DURMAZ, ASUDE, Balta, Burhan, Aynekin, Busra, KANDEMİR, NEFİSE, Kiraz, Aslihan, ÇOĞULU, MUHSİN ÖZGÜR, Gunes, Meltem Cerrah, KARADUMAN, NESLİHAN, Ozkayin, Nese, ÖZKINAY, FERİŞTAH FERDA, YALÇINTEPE, SİNEM, ÇOLAK, Fatma, SUBAŞIOĞLU, Aslı, Haziyeva, Konul, Bayramicli, Oya Uygur, Bilge, Ilmay, Kaya, Niyazi, Bayram, Arslan, Erguzeloglu, Cemre Ornek, KAVUKÇU, SALİH, DOĞAN, BERKCAN, Tuncel, Gulten, Mocan, Gamze, Kale, Hamdi, Gurakan, Figen, Uyguner, Zehra Oya, Tunc, Betul, Kuru, Seda, Boz, Mehmet, Dundar, Ayca, AKALIN, HİLAL, KAZIMLI, ULVIYYA, Zeybel, Mujdat, BAYSAL, KÜBRA, Zamani, Aysegul, GEÇKİNLİ, BİLGEN BİLGE, Uzel, Veysiye Hulya, DURAK ARAS, BEYHAN, Kiranatlioglu, Kubra, Ates, Esra Arslan, KULAK ABAY, HANDE, COŞKUN, MERT, EM, SERDA, ALTIOK CLARK, ÖZDEN, TOYLU, ASLI, TOZKIR, HİLMİ, Komesli, Zeynep, KOCAGİL, SİNEM, ÇEVİK, MUHAMMER ÖZGÜR, Eroz, Recep, Demirtas, Mercan, FIRAT, CEM KORAY, ERGÜN, MEHMET ALİ, YÜCE KAHRAMAN, Çiğdem, Yigit, Serbulent, Sanri, Aslihan, Siniksaran, Betul Seyhan, DEMİR, MİKAİL, ÖZÇELİK, FIRAT, Dundar, Bilge, BAŞ, HASAN, SUSAM, EZGİ, Karakoyun, Hilal Keskin, KARASU, NİLGÜN, Kenanoglu, Sercan, SAATÇİ, ÇETİN, ÖZKUL, YUSUF, Temena, Arda, Yuksel, Berrin, ÇAĞLAYAN, AHMET OKAY, BAHADIR, Oğuzhan, Genc, Gunes Cakmak, KEKLİKCİ, ALİ RIZA, Altunoglu, Umut, Sarac, Elif, Baskin, Esra Sidika, TOSUN, ÖZGÜR, Tulay, Pinar, Kabayegit, Zehra Manav, Altan, Mustafa, Mardan, Lamiya, Sayar, Ceyhan, ERZURUMLUOĞLU GÖKALP, EBRU, ÇETİN, GÖKHAN OZAN, Turkgenc, Burcu, Arslan, Serap, Tumer, Sait, NUR, BANU, Ergoren, Mahmut Cerkez, Onder, Nerin Bahceciler, KOÇAK, NADİR, Tasdemir, Mehmet, NERGİZ, SÜLEYMAN, Beyitler, Ilke, KUTLAY, NÜKET, TUNCALI, TİMUR, BEYAZIT, ŞERİFE BÜŞRA, SEMERCİ GÜNDÜZ, CAVİDAN NUR, SIDAR DUMAN, YEŞİM, Ergun, Sezen Guntekin, Ercal, Derya, ALEMDAR, ADEM, ALIYEVA, LAMIYA, ÖZEMRİ SAĞ, ŞEBNEM, Atasever, Umut, AYDIN, ZAFER, Thahir, Adam, TATAR, Abdulgani, ILGIN RUHİ, HATİCE, TERZİ, YUNUS KASIM, BİŞGİN, ATIL, Dincer, Selin Akad, ÖZDEMİR, ÖZTÜRK, ÜLGENALP, AYFER, PERÇİN, FERDA EMRİYE, YILDIRIM, MALİK EJDER, Ulu, Memnune Sena, Solak, Mustafa, Elmas, Muhsin, ÖZDEMİR ERDOĞAN, MÜJGAN, Zararsiz, Gozde Erturk, DEMİR, HÜSEYİN, ÇALIŞ, MUSTAFA, BAŞKOL, MEVLÜT, Aymelek, Huri Sema, ALTINTAŞ, ZUHAL, Eraslan, Serpil, KURT, EMİN EMRE, Erdem, Levent, FAHRİOGLU, UMUT, GÜLEÇ CEYLAN, GÜLAY, Sahin, Izem Olcay, CEYLAN, AHMET CEVDET, TUĞ BOZDOĞAN, SEVCAN, BOĞA, İBRAHİM, Yildiz, Saliha Handan, KARABULUT, HALİL GÜRHAN, YILMAZ, MUSTAFA, TEKEŞ, SELAHADDİN, SILAN, FATMA, KOCABEY, MEHMET, KOÇ, ALTUĞ, ÇANKAYA, TUFAN, BAĞIŞ, HAYDAR, BORA, ELÇİN, GİRAY BOZKAYA, ÖZLEM, ÖZDEMİR, Sevda Yeşim, ÖNAL, MÜGE GÜLCİHAN, ŞENEL, ABDURRAHMAN SONER, POYRAZOĞLU, MUAMMER HAKAN, PAÇ KISAARSLAN, AYŞENUR, GÜRSOY, ŞEBNEM, YÜCE, HÜSEYİN, DUMAN, NİLGÜN, BOZKURT, GÖKAY, Yararbas, Kanay, YILDIRIM, MAHMUT SELMAN, ARMAN, AHMET, MIHÇI, ERCAN, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı, Tekeş, Selahaddin, Üzel, Veysiye Hülya, Em, Serda, and DÜNDAR M., FAHRİOGLU U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., AKIN H., ARTAN S., Cora T., ŞAHİN F. İ., DURSUN A., et al.

Subjects
GENETİK VE KALITIM, Genotype, Turkey, PROTEIN ASC, MEFV, Life Sciences (LIFE), Molecular Biology and Genetics, KAPPA-B, Genotype-phenotype correlations, Sağlık Bilimleri, Familial Mediterranean fever, National Genetics Consortium, AUTOINFLAMMATION, ACTIVATION, Tıbbi Genetik, Yaşam Bilimleri, Health Sciences, Genetics, Humans, PYRIN, GENETICS & HEREDITY, Molecular Biology, Moleküler Biyoloji ve Genetik, Genetics (clinical), ASSOCIATIONS, Internal Medicine Sciences, MUTATIONS, Temel Bilimler, Life Sciences, General Medicine, Dahili Tıp Bilimleri, Tıp, PREVALENCE, MOLECULAR BIOLOGY & GENETICS, Genetics, Population, Phenotype, Yaşam Bilimleri (LIFE), AMYLOIDOSIS, Mutation, Medicine, Natural Sciences, Medical Genetics
Abstract

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.

Published
2022

4. The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases.

Author

Cine, Naci, Ugurtas, Cansu, Gokbayrak, Merve, Aydin, Duygu, Demir, Gulhan, Kuru, Seda, Sunnetci‐Akkoyunlu, Deniz, Eren‐Keskin, Seda, Simsek, Turgay, Cabuk, Devrim, Aksu, Maksut Gorkem, Canturk, Nuh Zafer, and Savli, Hakan

Subjects
BRCA genes, NUCLEOTIDE sequencing, MEDICAL genetics, GENETIC variation, BREAST cancer
Abstract

Introduction: Breast cancer is the most prevalent malignancy in women worldwide. Although pathogenic variants in the BRCA1/2 genes are responsible for the majority of hereditary breast cancer cases, a substantial proportion of patients are negative for pathogenic variations in these genes. In cancers, the signal transduction pathways of the cell are usually affected first. Therefore, this study aimed to detect and classified genetic variations in non‐BRCA signaling genes and investigate the underlying genetic causes of susceptibility to breast cancer. Methods: Ninety‐six patients without pathogenic variants in the BRCA1/2 genes who met the inclusion criteria were enrolled in the study, and 34 genes were analyzed using next‐generation sequencing (NGS) for genetic analysis. Results: Based on the ClinVar database or American College of Medical Genetics criteria, a total of 55 variants of 16 genes were detected in 43 (44.8%) of the 96 patients included in the study. The pathogenic variants were found in the TP53, CHEK2, and RET genes, whereas the likely pathogenic variants were found in the FGFR1, FGFR3, EGFR, and NOTCH1 genes. Conclusion: The examination of signaling genes in patients who met the established criteria for hereditary breast cancer but were negative for BRCA1/2 pathogenic variants provided additional information for approximately 8% of the families. The results of the present study suggest that NGS is a powerful tool for investigating the underlying genetic causes of occurrence and progression of breast cancer. [ABSTRACT FROM AUTHOR]

Published
2023
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