Akademik Veri Yönetim Sistemi
International Hereditary Cancers Congress, Antalya, Türkiye, 6 - 08 Şubat 2025, ss.113, (Özet Bildiri)
Abstract
Ovarian cancer (OC) is the leading cause of death among gynecological malignancies, accounting for approximately 225,000 new cases (3.7% of all female cancers) and 140,000 deaths (4.2% of all
cancer-related deaths in women) globally each year. Germline pathogenic variants in cancer-related genes are detected in approximately 23% of OC cases, with the majority occurring in BRCA1 and BRCA2, as well as other genes involved in homologous recombination or DNA mismatch repair pathways. Variability in germline testing rates across populations may stem from heterogeneous clinical practices. Guidelines from the European Society of Gynecological Oncology and the European Society of Medical Oncology recommend BRCA1/2 testing for all OC patients, except those with mucinous histology, while the American Society for Clinical Oncology advocates for germline multi-gene testing for all OC patients. This study evaluated the results of a Hereditary Cancer Panel and BRCA1/BRCA2/CHEK2 MLPA tests performed on peripheral blood samples from 80 OC patients referred to Eskişehir Osmangazi University Hospital Genetic Diagnosis Center in between January 2017 and August 2024. A total of 53 variants of uncertain significance (VUS), likely pathogenic (LP) or pathogenic (P) were identified in 45 patients Pathogenic/likely pathogenic variants were detected in %27,5 of the patients (22/80). Among the variant detected genes, BRCA1 (18/53, 34%) was the most common, followed by BRCA2 (5/53, %9,4), BRIP1, MSH2 and APC (each 3/53, 5,6%). In total, 53 variants were detected, with 34% classified as pathogenic, 9,4% as likely pathogenic, and 56,6% as VUS. Variant types included missense (62,2%), nonsense (24,5%), splice-site (5,6%), and deletions (7,5%). A gross exonic deletion in CHEK2 was detected in one patient using MLPA method. All patients received genetic counseling, and unique variant screening for family members was recommended. Screening programs were suggested to patients according to current guidelines. This study highlights the genetic heterogeneity of OC in a Turkish cohort, emphasizing the importance of identifying common germline mutations to guide personalized risk assessment and management.
Keywords: Germline, Ovarian cancer, Turkish cohort