Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience
Yıl: 2021 Cilt: 54 Sayı: 3 Sayfa Aralığı: 264 - 272 Metin Dili: İngilizce DOI: 10.5505/aot.2021.25348 İndeks Tarihi: 24-05-2022
Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience
Öz: Objective: In this study, it was aimed to determine the frequency of BRCA1 and BRCA2 variants in patients admitted to our clinic with hereditary breast-ovarian cancer and / or family history and to evaluate them in the light of the literature. Materials and Methods: All patients in our study were selected according to the current NCCN guideline test criteria. The Ion Torrent ™ Oncomine ™ BRCA Research Assay was used to sequence the coding regions of the BRCA1 and BRCA2 genes in our patients. In addition, all patients with copy number changes were confirmed with SALSA® MLPA® Probemix P002 BRCA1 and Probemix P090 BRCA2 (MRC Holland). Results: Variants (pathogenic, likely pathogenic, variants of uncertain clinical significance, and copy number variations) were detected in 39 of the 149 patients included in the study. Novel variants that were not previously described in the literature were detected in two patients, one of the BRCA1 and one of the BRCA2 gene, respectively. Conclusion: In our study, the incidence of BRCA1 and BRCA2 variants was found to be 26.1%. This rate was higher than previous studies conducted in Turkey. Further studies are needed to identify common variants in the Turkish population and to evaluate the patogenity of variants of uncertain clinical significance.
Anahtar Kelime: Herediter Meme-Over Kanseri ve BRCA1/BRCA2 Varyantları: Tek Merkez Deneyimi
Öz: Amaç: Bu çalışmada kliniğimize herediter meme-over kanseri ve/veya aile öyküsü nedeniyle başvuran hastalardaki BRCA1 ve BRCA2 varyantlarının sıklığının tespiti ve literatür eşliğinde değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Çalışmamızdaki tüm hastalar güncel NCCN rehberi test kriterleri doğrultusunda seçilerek dahil edilmiştir. Hastalarımızda BRCA1 ve BRCA2 genlerinin kodlayıcı bölgelerini dizilemek için Ion Torrent™ Oncomine™ BRCA Research Assay kullanılmıştır. Ayrıca kopya sayısı değişiklikleri tespit edilen tüm hastalar SALSA® MLPA® Probemix P002 BRCA1 ve Probemix P090 BRCA2 (MRC Holland) ile konfirme edildi. Bulgular: Çalışmaya dahil edilen toplam 149 hastanın 39’unda varyantlar (patojenik, muhtemel patojenik, klinik önemi belirsiz varyantlar ve kopya sayısı değişiklikleri) tespit edilmiştir. İki hastamızda (Biri BRCA1 geninde, biri BRCA2 geninde) daha önce literatürde tanımlanmamış yeni varyantlar tespit edilmiştir. Sonuç: Çalışmamızda BRCA1 ve BRCA2 varyantlarının görülme sıklığı %26,1 olarak belirlendi. Bu oran Türkiye'de yapılan önceki çalışmalara göre daha yüksek bulundu. Türk toplumundaki sık varyantların ve özellikle klinik önemi belirsiz varyantların patojenitesinin daha net değerlendirilebilmesi için daha fazla çalışmaya ihtiyaç vardır.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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| APA | Gezdirici A, İLİ E, DEĞİRMENCİ B, GÜMÜŞ A, Özdemir G, ERMAN N, YAVAŞ C (2021). Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. , 264 - 272. 10.5505/aot.2021.25348 |
| Chicago | Gezdirici Alper,İLİ Ezgi Gökpınar,DEĞİRMENCİ Banu,GÜMÜŞ Aydeniz Aydın,Özdemir Gizem,ERMAN Nihan Alişya,YAVAŞ Cüneyd Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. (2021): 264 - 272. 10.5505/aot.2021.25348 |
| MLA | Gezdirici Alper,İLİ Ezgi Gökpınar,DEĞİRMENCİ Banu,GÜMÜŞ Aydeniz Aydın,Özdemir Gizem,ERMAN Nihan Alişya,YAVAŞ Cüneyd Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. , 2021, ss.264 - 272. 10.5505/aot.2021.25348 |
| AMA | Gezdirici A,İLİ E,DEĞİRMENCİ B,GÜMÜŞ A,Özdemir G,ERMAN N,YAVAŞ C Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. . 2021; 264 - 272. 10.5505/aot.2021.25348 |
| Vancouver | Gezdirici A,İLİ E,DEĞİRMENCİ B,GÜMÜŞ A,Özdemir G,ERMAN N,YAVAŞ C Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. . 2021; 264 - 272. 10.5505/aot.2021.25348 |
| IEEE | Gezdirici A,İLİ E,DEĞİRMENCİ B,GÜMÜŞ A,Özdemir G,ERMAN N,YAVAŞ C "Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience." , ss.264 - 272, 2021. 10.5505/aot.2021.25348 |
| ISNAD | Gezdirici, Alper vd. "Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience". (2021), 264-272. https://doi.org/10.5505/aot.2021.25348 |
| APA | Gezdirici A, İLİ E, DEĞİRMENCİ B, GÜMÜŞ A, Özdemir G, ERMAN N, YAVAŞ C (2021). Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. ACTA ONCOLOGICA TURCICA, 54(3), 264 - 272. 10.5505/aot.2021.25348 |
| Chicago | Gezdirici Alper,İLİ Ezgi Gökpınar,DEĞİRMENCİ Banu,GÜMÜŞ Aydeniz Aydın,Özdemir Gizem,ERMAN Nihan Alişya,YAVAŞ Cüneyd Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. ACTA ONCOLOGICA TURCICA 54, no.3 (2021): 264 - 272. 10.5505/aot.2021.25348 |
| MLA | Gezdirici Alper,İLİ Ezgi Gökpınar,DEĞİRMENCİ Banu,GÜMÜŞ Aydeniz Aydın,Özdemir Gizem,ERMAN Nihan Alişya,YAVAŞ Cüneyd Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. ACTA ONCOLOGICA TURCICA, vol.54, no.3, 2021, ss.264 - 272. 10.5505/aot.2021.25348 |
| AMA | Gezdirici A,İLİ E,DEĞİRMENCİ B,GÜMÜŞ A,Özdemir G,ERMAN N,YAVAŞ C Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. ACTA ONCOLOGICA TURCICA. 2021; 54(3): 264 - 272. 10.5505/aot.2021.25348 |
| Vancouver | Gezdirici A,İLİ E,DEĞİRMENCİ B,GÜMÜŞ A,Özdemir G,ERMAN N,YAVAŞ C Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. ACTA ONCOLOGICA TURCICA. 2021; 54(3): 264 - 272. 10.5505/aot.2021.25348 |
| IEEE | Gezdirici A,İLİ E,DEĞİRMENCİ B,GÜMÜŞ A,Özdemir G,ERMAN N,YAVAŞ C "Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience." ACTA ONCOLOGICA TURCICA, 54, ss.264 - 272, 2021. 10.5505/aot.2021.25348 |
| ISNAD | Gezdirici, Alper vd. "Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience". ACTA ONCOLOGICA TURCICA 54/3 (2021), 264-272. https://doi.org/10.5505/aot.2021.25348 |
