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

Yıl 2021, Cilt: 5 Sayı: 1, 74 - 79, 03.04.2021

Muhammet Yusuf Tepebaşı , Kuyaş Hekimler Öztürk , Halil Özbaş , Pinar Aslan Kosar

https://doi.org/10.29058/mjwbs.798994

Öz

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.
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.

Anahtar Kelimeler

BRCA1 ve BRCA2 gen, meme ve/veya over kanseri, yeni nesil dizileme

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

Öz

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.

Anahtar Kelimeler

BRCA1 and BRCA2 gene, breast and/or ovarian cancer, next generation sequencing

Kaynakça

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