Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis

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dc.contributor.authorAyaz, Akif
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorSeyhan, Serhat
dc.contributor.authorGezen, Fazli Cem
dc.date.accessioned2024-06-12T10:55:11Z
dc.date.available2024-06-12T10:55:11Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjectives:The aim was to point out the importance of the diagnosis rate of breast cancer (BC) by analyzing the cancer predisposition genes except BRCA1/2 with multigene testing. Methods: In this study, 232 non-BRCA cases with BC and/or BC family history (FH) were analyzed using the next-generation sequencing method. Results: Twenty-two different pathogenic/likely pathogenic variants were determined in 24 (10.34%) of cases, and these variants were detected in the CHEK2 (7/24, 29.1%), ATM (5/24, 20.8%), MUTYH (3/24, 12.5%), BLM (2/24, 8.3%), WRN (2/24, 8.3%), TP53 (1/24, 4.1%), BRIP1 (1/24, 4.1%), MSH2 (1/24, 4.1%), NBN (1/24, 4.1%), and PTEN (1/24, 4.1%) genes including three novel variants which were identified in the BLM, ATM, and MSH2 (3/22, 13.6%) genes. Fourteen of 24 (58.3%) cases had BC diagnosis, and 10 of 24 (41.6%) cases had a FH of BC. Conclusion: Among non-BRCA BC and/or BC FH cases, cancer susceptibility gene frequency was 10.34% in this study. CHEK2 and ATM genes had relatively high mutation rates.en_US
dc.identifier.doi10.14744/ejmo.2022.88057
dc.identifier.endpage42en_US
dc.identifier.issn2587-196X
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85127097925en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage30en_US
dc.identifier.trdizinid521041en_US
dc.identifier.urihttps://doi.org/10.14744/ejmo.2022.88057
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/521041
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19325
dc.identifier.volume6en_US
dc.identifier.wosWOS:000820473900005en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherKare Publen_US
dc.relation.ispartofEurasian Journal Of Medicine And Oncologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBreast Canceren_US
dc.subjectCancer Susceptibilityen_US
dc.subjectNon-BRCA1/2en_US
dc.subjectTargeted Gene Analysisen_US
dc.subjectGeneticsen_US
dc.subjectUpdateen_US
dc.titleImportance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysisen_US
dc.typeArticleen_US

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