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

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dc.authorid0000-0002-8967-6124
dc.authorscopusid14037106700
dc.authorscopusid6504396778
dc.authorscopusid54887131700
dc.authorscopusid56429434500
dc.authorscopusid56472783500
dc.authorscopusid57193613398
dc.authorscopusid46760997000
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorDemir, Selma
dc.contributor.authorTozkır, Hilmi
dc.contributor.authorGürkan, Hakan
dc.contributor.authorAtli, E. Ikbal
dc.contributor.authorYalçıntepe, Sinem
dc.contributor.authorAtli, Engin
dc.contributor.authorCicin, İrfan
dc.date.accessioned2022-05-11T14:41:14Z
dc.date.available2022-05-11T14:41:14Z
dc.date.issued2020
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
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.
dc.identifier.endpage1347
dc.identifier.issn1107-0625
dc.identifier.issn2241-6293
dc.identifier.issue3en_US
dc.identifier.pmid32862574
dc.identifier.scopus2-s2.0-85090101784
dc.identifier.scopusqualityQ3
dc.identifier.startpage1337
dc.identifier.urihttps://hdl.handle.net/20.500.11776/9113
dc.identifier.volume25
dc.identifier.wosWOS:000562382600009
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorTozkır, Hilmi
dc.language.isoen
dc.publisherImprimatur Publications
dc.relation.ispartofJournal of Buon
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectHBOC
dc.subjectBRCA1
dc.subjectBRCA2
dc.subjectNGS
dc.subjectBreast-Cancer
dc.subjectHereditary Breast
dc.subjectTurkish Breast
dc.subjectOvarian-Cancer
dc.subjectGermline Mutations
dc.subjectSequence Variants
dc.subjectFamilies
dc.subjectWomen
dc.titleGenetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey
dc.typeArticle

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