Hereditary Breast-Ovarian Cancer and BRCA1 / BRCA2 Variants: A Single Center Experience

INTRODUCTION: 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.
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 2 patients, one of the BRCA1 and one of the BRCA2 gene, respectively.
DISCUSSION AND 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 pýopulation and to evaluate the patogenity of variants of uncertain clinical significance.

Herediter Meme-Over Kanseri ve BRCA1/ BRCA2 Varyantlarý: Tek Merkez Deneyimi

GÝRÝÞ ve AMAÇ: Bu çalýþmada kliniðimize herediter meme-over kanseri ve/veya aile öyküsü nedeniyle baþvuran hastalardaki BRCA1 ve BRCA2 varyantlarýnýn sýklýðýnýn tespiti ve literatür eþliðinde deðerlendirilmesi amaçlanmýþtýr.
YÖNTEM ve GEREÇLER: Çalýþmamýzdaki tüm hastalar güncel NCCN rehberi test kriterleri doðrultusunda seçilerek dahil edilmiþtir. Hastalarýmýzda BRCA1 ve BRCA2 genlerinin kodlayýcý bölgelerini dizilemek için Ion Torrent™ Oncomine™ BRCA Research Assay kullanýlmýþtýr. Ayrýca kopya sayýsý deðiþiklikleri tespit edilen tüm hastalar SALSA® MLPA® Probemix P002 BRCA1 ve Probemix P090 BRCA2 (MRC Holland) ile konfirme edildi.
BULGULAR: Çalýþmaya dahil edilen toplam 149 hastanýn 39’unda varyantlar (patojenik, muhtemel patojenik, klinik önemi belirsiz varyantlar ve kopya sayýsý deðiþiklikleri) tespit edilmiþtir. 2 hastamýzda (1’i BRCA1 geninde, 1’i BRCA2 geninde) daha önce literatürde tanýmlanmamýþ yeni varyantlar tespit edilmiþtir.
TARTIÞMA ve SONUÇ: Çalýþmamýzda BRCA1 ve BRCA2 varyantlarýnýn görülme sýklýðý %26,1 olarak belirlendi. Bu oran Türkiye'de yapýlan önceki çalýþmalara göre daha yüksek bulundu. Türk toplumundaki sýk varyantlarýn ve özellikle klinik önemi belirsiz varyantlarýn patojenitesinin daha net deðerlendirilebilmesi için daha fazla çalýþmaya ihtiyaç vardýr.