Muhammet Yusuf TEPEBAŞI, Kuyaş HEKİMLER ÖZTÜRK, Halil ÖZBAŞ, Pınar ASLAN KOŞAR

Isparta Bölgesinde Meme ve/veya Over Kanseri Riski Taşıyan Hastalarda BRCA1 ve BRCA2 Gen Mutasyonlarının Yeni Nesil Dizileme Yöntemi ile Belirlenmesi

Amaç: Tümör baskılayıcı genler BRCA1 ve BRCA2, meme ve / veya over kanserlerinde tarama ve teşhis için kullanılmaktadır. BRCA1 / BRCA2 genleri bu hastalıkların % 20-25’i ile ilişkilidir. BRCA1 ve BRCA2 gen mutasyonlarının spektrumu ve prevalansı her popülasyonda farklıdır. Duyarlılık genlerindeki patojenik mutasyonların prevalansını belirlemek ve yeni mutasyonları tanımlamak ulusal sağlık politikaları geliştirmek için önemlidir. Bu retrospektif çalışmada, Isparta bölgesinde meme / veya over kanser şüphesi ile 2018-2020 yılları arasında Süleyman Demirel Üniversitesi Tıp Fakültesi Tıbbi Genetik Kliniği’ne başvuran hastaların BRCA1/2 genlerindeki mutasyonlar araştırılmıştır. Gereç ve Yöntemler: Çalışmamızda meme kanseri, memede kitle, aile öyküsü ve over kanseri endikasyonu ile Tıbbi Genetik Kliniğine başvuran 76 hastanın Yeni Nesil Dizileme (NGS) yöntemi ile BRCA1 ve BRCA2 gen mutasyon analizleri yapılmıştır. Bulgular: Verileri değerlendirmelerimiz sonucunda, BRCA1 geninde 4 patojenik, 1 muhtemel patojenik, 5 önemi bilinmeyen varyant (VUS) ve 11 benign varyant tespit edildi. Ayrıca BRCA2 geninde 3 patojenik, 3 VUS, 11 benign ve 1 yeni varyant tespit edildi. Sonuç: Çalışmamızın sonucunda elde ettiğimiz verilerin BRCA1 ve BRCA2 gen mutasyonlarının prevalansının belirlenmesine ve meme ve / veya over kanserinin saptanmasına katkıda bulunacağına inanıyoruz.

Determination of BRCA1 and BRCA2 Gene Mutations in Patients at Risk of Breast and/or Ovarian Cancer by Next Generation Sequencing in the Isparta Region

Aim: The tumor suppressor genes BRCA1 and BRCA2 are used for screening and diagnosis of breast and/or ovarian cancers. BRCA1 / BRCA2 genes are associated with 20-25% of these diseases. The spectrum and prevalence of BRCA1 and BRCA2 gene mutations are different in each population. Determining the prevalence of pathogenic mutations in susceptibility genes and identifying new mutations are important for developing national health policies. In this retrospective study, mutations in the BRCA1 / 2 genes of patients who applied to Süleyman Demirel University Faculty of Medicine Medical Genetics Clinic between 2018-2020 with the suspicion of breast / or ovarian cancer in the Isparta region were investigated. Material and Methods: In our study, BRCA1 and BRCA2 gene mutation analyzes were performed by Next Generation Sequencing (NGS) method in 76 patients who applied to the Medical Genetics Clinic with the indication of breast cancer, breast mass, family history, and ovarian cancer. Results: As a result of our data analysis, 4 pathogenic, 1 likely pathogenic, 5 variants of unknown significance (VUS), and 11 benign variants were detected in the BRCA1 gene. Also, 3 pathogenic, 3 VUS, 11 benign, and 1 new variant were detected in the BRCA2 gene. Conclusion: We believe that the results of our study will contribute to the determination of the prevalence of BRCA1 and BRCA2 gene mutations and the detection of breast and/or ovarian cancer.

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