Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridCicin, Irfan/0000-0002-7584-3868
dc.authoridEKER, DAMLA/0000-0001-7563-118X
dc.authoridYALCINTEPE, Sinem/0000-0002-8557-8885
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidCicin, Irfan/AAQ-5575-2020
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGurkan, Hakan
dc.contributor.authorDemir, Selma
dc.contributor.authorTozkir, Hilmi
dc.contributor.authorTezel, Huseyin Ahmet
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.date.accessioned2024-06-12T11:03:10Z
dc.date.available2024-06-12T11:03:10Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground: Recent advances in next-generation sequencing (NGS) technology have enabled multigene testing and changed the diagnostic approach to hereditary gastrointestinal cancer/polyposis syndromes. The aim of this study was to analyze different cancer predisposition genes in hereditary/sporadic gastrointestinal cancer/polyposis. Methods: Cancer predisposition genes were analyzed with an Illumina MiSeq NGS system in 80 patients with gastrointestinal cancer/polyposis who were examined between the years 2016 and 2019. Deletion/duplication analysis of MLH1, MSH2, and EPCAM genes was performed by using the multiplex ligation-dependent probe amplification method. Results: Germline testing of hereditary cancer-related genes was performed in 80 patients with gastrointestinal cancer/polyposis. A total of 30 variants in 30 cases (37.5%) were assessed as pathogenic/likely pathogenic. A total of 19 heterozygous variants were assessed as variants of uncertain clinical significance in 17 cases (21.25%) and 18 (22.5%) novel variations (9 pathogenic/likely pathogenic, 9 variants of uncertain significance) were determined. In 4 (5%) cases, multiplex ligation-dependent probe amplification detected deletions in MLH1, MSH2, and EPCAM genes. Conclusion: The accumulation of analyses with multigene testing will increase the available data for cancer predisposition genes in hereditary gastrointestinal cancer/polyposis. Educational campaigns for prevention, efficient screening programs, and more personalized care based on the profile of individual patients are necessary.en_US
dc.identifier.doi10.1177/0300891620919171
dc.identifier.endpage517en_US
dc.identifier.issn0300-8916
dc.identifier.issn2038-2529
dc.identifier.issue6en_US
dc.identifier.pmid32390558en_US
dc.identifier.scopus2-s2.0-85084825816en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage510en_US
dc.identifier.urihttps://doi.org/10.1177/0300891620919171
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21559
dc.identifier.volume106en_US
dc.identifier.wosWOS:000535534700001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSage Publications Ltden_US
dc.relation.ispartofTumori Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHereditary Colorectal Canceren_US
dc.subjectPolyposisen_US
dc.subjectMultigene Testingen_US
dc.subjectNext-Generation Sequencingen_US
dc.subjectGenetic Counselingen_US
dc.subjectCanceren_US
dc.subjectHereditaryen_US
dc.subjectRisken_US
dc.subjectEpidemiologyen_US
dc.subjectVariantsen_US
dc.subjectRecommendationsen_US
dc.subjectSusceptibilityen_US
dc.subjectChallengesen_US
dc.subjectPolyposisen_US
dc.subjectGeneticsen_US
dc.titleTargeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposisen_US
dc.typeArticleen_US

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