Genetic and clinical analysis of epithelial ovarian cancer in Greek patients

Ovarian cancer is the deadliest cancer of the reproductive system for women in Western societies. The recent implementation of next-generation sequencing (NGS) technologies in the clinical setting is progressively revealing new genetic variants that are involved in ovarian cancer pathogenesis and allows the identification of patient subgroups for which prevention strategies can be developed. Herein, a subset of Greek patients diagnosed with epithelial ovarian cancer were selected for genetic testing by NGS, followed by MLPA. Clinical data were collected from 245 patients, 109 of whom were eligible for inclusion in the study. Overall, 14.7% and 8.3% carried germlineBRCA1 and BRCA2 pathogenic variants, respectively, while 3.7% carried a damaging variant in additional cancer predisposing genes namely, MSH6 and RAD51C. Patients who were diagnosed at an advanced stage, i.e. III-IV, had significantly shorter overall survival compared to patients with stage I-II cancer at diagnosis. Genetic status and other patients' parameters, evaluated in the study, seem to significantly affect overall survival and disease recurrence.