Post-graduate theses
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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
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Πότσκα, Κέβισα
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Thesis advisor
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Γεωργιάδης, Παναγιώτης
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Reviewer
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Παπαδοδήμα, Όλγα
Γιαννουκάκος, Δρακούλης
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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.
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Language |
Greek, English |
Subject |
Genetic counseling |
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NGS |
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Γενετική συμβουλευτική |
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Καρκίνος Παγκρέατος |
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Πολυγονιδιακός έλεγχος |
Issue date |
2024-07-26 |
Collection
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School/Department--School of Medicine--Department of Medicine--Post-graduate theses
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Type of Work--Post-graduate theses
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Permanent Link |
https://elocus.lib.uoc.gr//dlib/d/a/d/metadata-dlib-1720605850-247655-11949.tkl
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Views |
348 |