Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGürkan, Hakan/0000-0002-8967-6124;
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.contributor.authorDemir, Selma
dc.contributor.authorTozkir, Hilmi
dc.contributor.authorGurkan, Hakan
dc.contributor.authorAtli, E. Ikbal
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Engin
dc.contributor.authorSezer, Y. Atakan
dc.date.accessioned2024-06-12T11:02:56Z
dc.date.available2024-06-12T11:02:56Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractPurpose: Pathogenic/likely pathogenic (P/LP) germline variations in BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. This study presents the BRCA1/BRCA2 sequencing and deletion duplication analyses results of of 493 participants (485 women, 8 men) selected based on the National Comprehensive Cancer Network (NCCN) guidelines. Methods: Next generation sequencing (NGS) and multiplex ligation-dependent probe amplification methods (MLPA) were used to define germline BRCA1/BRCA2 positivity. Results: Overall, the P/LP frequency of the participants was 17.8%. Five of the likely pathogenic variants were novel. The 5266dupC pathogenic variation, which is a founder mutation in the Ashkenazi Jewish population, was the most common variation among the patients, with a frequency of 5.47%. The pathogenic/likely pathogenic variation frequency was significantly higher (p=0.01) among clinically diagnosed familial cancer patisents than those participants without personal history of cancer but enrolled for BRCA1 testing due to familial risk. BRCA1/BRCA mutation positivity was significantly higher (p=0.000) among those who had at least one first- or second-degree relative with breast/ovarian cancer from patients who had no family history. BRCA1/BRCA2 mutation positivity was 69.23% between the patients who had personal history of both breast and ovarian cancer. Conclusion: Based on our findings, we suggest that sequencing all of the coding regions of the BRCA1/BRCA2 genes using NGS is a feasible approach for individuals who are at risk of developing BRCA-related cancer according to NCCN guidelines. The 5266dupC pathogenic variation, as the most common pathogenic variation in the Trakya region of Turkey, should be included if a targeted mutatin screening is planned.en_US
dc.identifier.endpage1347en_US
dc.identifier.issn1107-0625
dc.identifier.issn2241-6293
dc.identifier.issue3en_US
dc.identifier.pmid32862574en_US
dc.identifier.scopus2-s2.0-85090101784en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage1337en_US
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21473
dc.identifier.volume25en_US
dc.identifier.wosWOS:000562382600009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherImprimatur Publicationsen_US
dc.relation.ispartofJournal Of Buonen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHBOCen_US
dc.subjectBRCA1en_US
dc.subjectBRCA2en_US
dc.subjectNGSen_US
dc.subjectBreast-Canceren_US
dc.subjectHereditary Breasten_US
dc.subjectTurkish Breasten_US
dc.subjectOvarian-Canceren_US
dc.subjectGermline Mutationsen_US
dc.subjectSequence Variantsen_US
dc.subjectFamiliesen_US
dc.subjectWomenen_US
dc.titleGenetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkeyen_US
dc.typeArticleen_US

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