E-Locus - Institutional Repository of the University of Crete

Home Collections Type of Work Post-graduate theses

Post-graduate theses

Current Record: 25 of 6676

[Add to Basket]

Identifier

000466013

Title

Η Κλινική χρησιμότητα του πολυγονιδιακού ελέγχου στον Κλη-ρονομούμενο Καρκίνο Παγκρέατος

Alternative Title

The clinical utility of multigene screening in hereditary pan-creatic cancer

Author

Πότσκα, Κέβισα

Thesis advisor

Γεωργιάδης, Παναγιώτης

Reviewer

Παπαδοδήμα, Όλγα
Γιαννουκάκος, Δρακούλης

Abstract

Introduction: Pancreatic cancer accounts for 2% of all cancers and is implicated in 5% of cancer-related deaths. Pathogenic variants in genes have been associated with an increased risk of de-veloping pancreatic cancer. Patients with pancreatic cancer who carry a pathogenic variant in genes involved in the DNA repair pathway through homologous recombination are likely to benefit from treatment with PARP inhibitors. Methods: A total of 184 patients with pancreatic cancer were referred to Genekor Medical Ltd. for genetic testing. Analysis of 52 genes involved in hereditary cancer predisposition was performed using next-generation sequencing technology. Results: Pathogenic/possibly pathogenic variant was detected in 21% of the patients analyzed. Among those with pathogenic/possibly pathogenic variants, 72% had a positive finding in a gene associated with pancreatic cancer, specifically the following genes: ATM 15% (6/38), BRCA1 12% (5/38), BRCA2 7% (3/38), CHEK2 10% (4/38), MUTYH 17% (7/38), CDKN2A 7% (3/38), PALB2 5% (2/38) but also other genes such as FANCL 5% (2/38), NBN 5% (2/38), RAD50 5% (2/38). In addition, 64.3% of pathogenic variants were detected in genes related to the DNA repair pathway through homologous recombination (ATM, BRCA1, BRCA2, CHEK2, MRE11, PALB2, RAD50 and RAD51C). Conclusions: Our results suggest that polygenic genetic testing is important for patients with pan-creatic cancer as 21% of subjects had findings associated with a predisposition to pancreatic cancer or other types of cancer. In addition, pathogenic/potentially pathogenic variants in the DNA repair pathway genes through homologous recombination were identified in 19% of patients and these patients may benefit from targeted therapies such as PARP inhibitors or platinum-based therapy.

Language

Greek, English

Subject

Genetic counseling

NGS

Γενετική συμβουλευτική

Καρκίνος Παγκρέατος

Πολυγονιδιακός έλεγχος

Issue date

2024-07-26

Collection

School/Department--School of Medicine--Department of Medicine--Post-graduate theses