A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey

Yıl: 2023 Cilt: 19 Sayı: 3 Sayfa Aralığı: 235 - 252 Metin Dili: İngilizce DOI: 10.4274/ejbh.galenos.2023.2023-2-5 İndeks Tarihi: 24-07-2023

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey

Öz:
Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association. Materials and Methods: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases. Results: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations. Conclusion: Patients with BRCA2 mutations were significantly more common than those with BRCA1 mutations. In sporadic cases, there was a lower proportion with BRCA1/BRCA2 variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Barba D, León-Sosa A, Lugo P, Suquillo D, Torres F, Surre F, et al. Breast cancer, screening and diagnostic tools: All you need to know. Crit Rev Oncol Hematol 2020; 157: 103174. (PMID: 33249359) [Crossref ]
  • 2. Liedtke C, Jackisch C, Thill M, Thomssen C, Müller V, Janni W. AGO Recommendations for the Diagnosis and Treatment of Patients with Early Breast Cancer: Update 2018. Breast Care (Basel) 2018; 13: 196-208. (PMID: 30069181) [Crossref ]
  • 3. Bisgin A, Boga I, Yalav O, Sonmezler O, Tug Bozdogan S. BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history. Breast J 2019; 25: 1029-1033. (PMID: 31228304) [Crossref ]
  • 4. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003; 21: 577-581. (PMID: 12754702) [Crossref ]
  • 5. Carioli G, Malvezzi M, Rodriguez T, Bertuccio P, Negri E, La Vecchia C. Trends and predictions to 2020 in breast cancer mortality in Europe. Breast 2017; 36: 89-95. (PMID: 28988610) [Crossref ]
  • 6. Afghahi A, Kurian AW. The Changing Landscape of Genetic Testing for Inherited Breast Cancer Predisposition. Curr Treat Options Oncol 2017; 18: 27. (PMID: 28439798) [Crossref ]
  • 7. Melchor L, Benítez J. The complex genetic landscape of familial breast cancer. Hum Genet 2013; 132: 845-863. (PMID: 23552954) [Crossref ]
  • 8. Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Papadopoulou E, Metaxa-Mariatou V, et al. Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center. Cancer Genet 2018; 220: 1-12. (PMID: 29310832) [Crossref ]
  • 9. Geredeli C, Yasar N, Sakin A. Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population. Int J Breast Cancer 2019; 2019: 9645147. (PMID: 30713775) [Crossref ]
  • 10. Pirim D, Kaya N, Yıldırım EU, Sag SO, Temel SG. Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers. International Journal of Biological Macromolecules. 2020; 162: 1166-1177. (PMID: 32599251) [Crossref ]
  • 11. American Society of Clinical Oncology (ASCO). https://www.asco.org/ research-guidelines/quality-guidelines/guidelines/breast-cancer Accessed 15.02.2021 2021. [Crossref ]
  • 12. Gradishar WJ, Moran MS, Abraham J, Aft R, Agnese D, Allison KH, et al. Breast Cancer, Version 3.2022, NCCN Clinical Practice Guidelines in Oncology. Journal of the National Comprehensive Cancer Network : JNCCN 2022; 20: 691-722. (PMID: 35714673) [Crossref ]
  • 13. Armstrong N, Ryder S, Forbes C, Ross J, Quek RG. A systematic review of the international prevalence of BRCA mutation in breast cancer. Clin Epidemiol 2019; 11: 543-561. (PMID: 31372057) [Crossref ]
  • 14. Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat 2018; 39: 593-620. (PMID: 29446198) [Crossref ]
APA Boga I, ozemri sag s, Duman N, Ozdemir Y, Ergoren M, Dalcı K, MUJDE C, PARSAK C, Rencüzoğulları Ç, Sonmezler O, Yalav O, ALEMDAR A, Aliyeva L, Bozkurt O, çetintaş s, cubukcu e, deligonul a, Doğan B, Ornek C, Evrensel T, Gökgöz M, Senol K, Tolunay Ş, Akyurek E, BAŞGÖZ N, Gokce N, Dundar B, Öztürk F, Taşkın D, Demirtas M, CAG M, Diker O, Olgun P, tug bozdogan s, Dundar M, Bisgin A, Temel S (2023). A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. , 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
Chicago Boga Ibrahim,ozemri sag sebnem,Duman Nilgün,Ozdemir Yesim,Ergoren Mahmut Cerkez,Dalcı Kubilay,MUJDE Cem,PARSAK CEM KAAN,Rencüzoğulları Çağla,Sonmezler Ozge,Yalav Orcun,ALEMDAR ADEM,Aliyeva Lamiya,Bozkurt Ozlem,çetintaş sibel kahraman,cubukcu erdem,deligonul adem,Doğan Berkcan,Ornek Cemre,Evrensel Turkkan,Gökgöz Mustafa Şehsuvar,Senol Kazim,Tolunay Şahsine,Akyurek Esra,BAŞGÖZ Neslihan,Gokce Nuriye,Dundar Bilge,Öztürk Figen,Taşkın Duygu,Demirtas Mercan,CAG MURAT,Diker Omer,Olgun Polat,tug bozdogan sevcan,Dundar Munis,Bisgin Atil,Temel Sehime G A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. (2023): 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
MLA Boga Ibrahim,ozemri sag sebnem,Duman Nilgün,Ozdemir Yesim,Ergoren Mahmut Cerkez,Dalcı Kubilay,MUJDE Cem,PARSAK CEM KAAN,Rencüzoğulları Çağla,Sonmezler Ozge,Yalav Orcun,ALEMDAR ADEM,Aliyeva Lamiya,Bozkurt Ozlem,çetintaş sibel kahraman,cubukcu erdem,deligonul adem,Doğan Berkcan,Ornek Cemre,Evrensel Turkkan,Gökgöz Mustafa Şehsuvar,Senol Kazim,Tolunay Şahsine,Akyurek Esra,BAŞGÖZ Neslihan,Gokce Nuriye,Dundar Bilge,Öztürk Figen,Taşkın Duygu,Demirtas Mercan,CAG MURAT,Diker Omer,Olgun Polat,tug bozdogan sevcan,Dundar Munis,Bisgin Atil,Temel Sehime G A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. , 2023, ss.235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
AMA Boga I,ozemri sag s,Duman N,Ozdemir Y,Ergoren M,Dalcı K,MUJDE C,PARSAK C,Rencüzoğulları Ç,Sonmezler O,Yalav O,ALEMDAR A,Aliyeva L,Bozkurt O,çetintaş s,cubukcu e,deligonul a,Doğan B,Ornek C,Evrensel T,Gökgöz M,Senol K,Tolunay Ş,Akyurek E,BAŞGÖZ N,Gokce N,Dundar B,Öztürk F,Taşkın D,Demirtas M,CAG M,Diker O,Olgun P,tug bozdogan s,Dundar M,Bisgin A,Temel S A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. . 2023; 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
Vancouver Boga I,ozemri sag s,Duman N,Ozdemir Y,Ergoren M,Dalcı K,MUJDE C,PARSAK C,Rencüzoğulları Ç,Sonmezler O,Yalav O,ALEMDAR A,Aliyeva L,Bozkurt O,çetintaş s,cubukcu e,deligonul a,Doğan B,Ornek C,Evrensel T,Gökgöz M,Senol K,Tolunay Ş,Akyurek E,BAŞGÖZ N,Gokce N,Dundar B,Öztürk F,Taşkın D,Demirtas M,CAG M,Diker O,Olgun P,tug bozdogan s,Dundar M,Bisgin A,Temel S A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. . 2023; 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
IEEE Boga I,ozemri sag s,Duman N,Ozdemir Y,Ergoren M,Dalcı K,MUJDE C,PARSAK C,Rencüzoğulları Ç,Sonmezler O,Yalav O,ALEMDAR A,Aliyeva L,Bozkurt O,çetintaş s,cubukcu e,deligonul a,Doğan B,Ornek C,Evrensel T,Gökgöz M,Senol K,Tolunay Ş,Akyurek E,BAŞGÖZ N,Gokce N,Dundar B,Öztürk F,Taşkın D,Demirtas M,CAG M,Diker O,Olgun P,tug bozdogan s,Dundar M,Bisgin A,Temel S "A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey." , ss.235 - 252, 2023. 10.4274/ejbh.galenos.2023.2023-2-5
ISNAD Boga, Ibrahim vd. "A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey". (2023), 235-252. https://doi.org/10.4274/ejbh.galenos.2023.2023-2-5
APA Boga I, ozemri sag s, Duman N, Ozdemir Y, Ergoren M, Dalcı K, MUJDE C, PARSAK C, Rencüzoğulları Ç, Sonmezler O, Yalav O, ALEMDAR A, Aliyeva L, Bozkurt O, çetintaş s, cubukcu e, deligonul a, Doğan B, Ornek C, Evrensel T, Gökgöz M, Senol K, Tolunay Ş, Akyurek E, BAŞGÖZ N, Gokce N, Dundar B, Öztürk F, Taşkın D, Demirtas M, CAG M, Diker O, Olgun P, tug bozdogan s, Dundar M, Bisgin A, Temel S (2023). A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. European Journal of Breast Health, 19(3), 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
Chicago Boga Ibrahim,ozemri sag sebnem,Duman Nilgün,Ozdemir Yesim,Ergoren Mahmut Cerkez,Dalcı Kubilay,MUJDE Cem,PARSAK CEM KAAN,Rencüzoğulları Çağla,Sonmezler Ozge,Yalav Orcun,ALEMDAR ADEM,Aliyeva Lamiya,Bozkurt Ozlem,çetintaş sibel kahraman,cubukcu erdem,deligonul adem,Doğan Berkcan,Ornek Cemre,Evrensel Turkkan,Gökgöz Mustafa Şehsuvar,Senol Kazim,Tolunay Şahsine,Akyurek Esra,BAŞGÖZ Neslihan,Gokce Nuriye,Dundar Bilge,Öztürk Figen,Taşkın Duygu,Demirtas Mercan,CAG MURAT,Diker Omer,Olgun Polat,tug bozdogan sevcan,Dundar Munis,Bisgin Atil,Temel Sehime G A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. European Journal of Breast Health 19, no.3 (2023): 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
MLA Boga Ibrahim,ozemri sag sebnem,Duman Nilgün,Ozdemir Yesim,Ergoren Mahmut Cerkez,Dalcı Kubilay,MUJDE Cem,PARSAK CEM KAAN,Rencüzoğulları Çağla,Sonmezler Ozge,Yalav Orcun,ALEMDAR ADEM,Aliyeva Lamiya,Bozkurt Ozlem,çetintaş sibel kahraman,cubukcu erdem,deligonul adem,Doğan Berkcan,Ornek Cemre,Evrensel Turkkan,Gökgöz Mustafa Şehsuvar,Senol Kazim,Tolunay Şahsine,Akyurek Esra,BAŞGÖZ Neslihan,Gokce Nuriye,Dundar Bilge,Öztürk Figen,Taşkın Duygu,Demirtas Mercan,CAG MURAT,Diker Omer,Olgun Polat,tug bozdogan sevcan,Dundar Munis,Bisgin Atil,Temel Sehime G A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. European Journal of Breast Health, vol.19, no.3, 2023, ss.235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
AMA Boga I,ozemri sag s,Duman N,Ozdemir Y,Ergoren M,Dalcı K,MUJDE C,PARSAK C,Rencüzoğulları Ç,Sonmezler O,Yalav O,ALEMDAR A,Aliyeva L,Bozkurt O,çetintaş s,cubukcu e,deligonul a,Doğan B,Ornek C,Evrensel T,Gökgöz M,Senol K,Tolunay Ş,Akyurek E,BAŞGÖZ N,Gokce N,Dundar B,Öztürk F,Taşkın D,Demirtas M,CAG M,Diker O,Olgun P,tug bozdogan s,Dundar M,Bisgin A,Temel S A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. European Journal of Breast Health. 2023; 19(3): 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
Vancouver Boga I,ozemri sag s,Duman N,Ozdemir Y,Ergoren M,Dalcı K,MUJDE C,PARSAK C,Rencüzoğulları Ç,Sonmezler O,Yalav O,ALEMDAR A,Aliyeva L,Bozkurt O,çetintaş s,cubukcu e,deligonul a,Doğan B,Ornek C,Evrensel T,Gökgöz M,Senol K,Tolunay Ş,Akyurek E,BAŞGÖZ N,Gokce N,Dundar B,Öztürk F,Taşkın D,Demirtas M,CAG M,Diker O,Olgun P,tug bozdogan s,Dundar M,Bisgin A,Temel S A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey. European Journal of Breast Health. 2023; 19(3): 235 - 252. 10.4274/ejbh.galenos.2023.2023-2-5
IEEE Boga I,ozemri sag s,Duman N,Ozdemir Y,Ergoren M,Dalcı K,MUJDE C,PARSAK C,Rencüzoğulları Ç,Sonmezler O,Yalav O,ALEMDAR A,Aliyeva L,Bozkurt O,çetintaş s,cubukcu e,deligonul a,Doğan B,Ornek C,Evrensel T,Gökgöz M,Senol K,Tolunay Ş,Akyurek E,BAŞGÖZ N,Gokce N,Dundar B,Öztürk F,Taşkın D,Demirtas M,CAG M,Diker O,Olgun P,tug bozdogan s,Dundar M,Bisgin A,Temel S "A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey." European Journal of Breast Health, 19, ss.235 - 252, 2023. 10.4274/ejbh.galenos.2023.2023-2-5
ISNAD Boga, Ibrahim vd. "A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey". European Journal of Breast Health 19/3 (2023), 235-252. https://doi.org/10.4274/ejbh.galenos.2023.2023-2-5