Unit:
Faculty of MedicineLibrary of the School of Health Sciences
Dissertation committee:
Γεώργιος Βλάχος, Ομότιμος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Παππά Καλλιόπη, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Γιαννουκάκος Δρακούλης, Ερευνητής Α΄, ΕΚΕΦΕ Δημόκριτος
Ροδολάκης Αλέξανδρος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Πρωτοπαπάς Αθανάσιος, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Θωμάκος Νικόλαος. Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Χαιδόπουλος Δημήτριος, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Γενετική συμβουλευτική και μοριακή γενετική ανάλυση σε γυναίκες με καρκίνο των ωοθηκών
Translated title:
Counselling framework and genetic analysis in patients with ovarian cancer
Summary:
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,MSH6and 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.
Although our study did not reach statistical significance on overall survival for patients carrying germline pathogenic variants, identification of such patients is of high importance, given the opportunity they have for targeted therapies. The important role of multi-gene panel testing in unraveling cancer predisposition applies to every ovarian cancer patient, even when personal or familial criteria do not strongly fit with hereditary syndromes.
Main subject category:
Health Sciences
Keywords:
Ovarian cancer, Hereditary cancer, NGS, BRCA1, BRCA2
Number of references:
123
