Next-Generation Sequencing Analysis of Hereditary Ovarian Cancer Gene Panels in Turkish Population

Abstract

Purpose: Ovarian cancer is the seventh most frequent cancer in women worldwide and the eighth leading cause of death from cancer. Approximately 5–10% of all diagnosed cancer cases are caused by hereditary cancer risk syndromes. The aim of this study was investigate the prevalence of pathogenic variants associated with hereditary ovarian cancer propensity inTurkish people. Methods:630 patients with personal or a family history of breast and/or ovarian cancer and other cancers included in the study. The Illumina NGS technology was used to enrich genomic DNA. Results:118 of the 630 tested people have pathogenic mutation (20.0%). The mutation distribution detected in a total of 130 patients was 131. 1 mutation (1,315%) in ATM , 40 different mutations (52.630%) in BRCA1, 29 different mutations in BRCA2 (38.165%), 2 different mutations (2,630) in CHEK2, 1 mutation (1,315%) in ERCC2, 1 mutation (1,315%) in MUTYH, 1 mutation (1,315%) in RAD51C, and 1 mutation (1,315%) were detected in TP53.Notably, in a patient with ovarian cancer both BRCA1 and BRCA2 mutations; BRCA1 NM_007294.3Ex1c.135-2A>Gp.?rs80358065 and BRCA2 NM_000059.3 Ex 11 c.6466_6469delTCTC p.Ser2156Asnfs*11rs879255330 were found, respectively. Conclusion: Analysis of gene panels demonstrate the clinical importance of multigene panel analysis in hereditary cancer predisposition meeting the BRCA1/2 NCCN criteria in Turkish population.