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.authorid0000-0001-6930-7148
dc.contributor.authorAyaz, Akif
dc.contributor.authorYalçıntepe, Sinem
dc.contributor.authorSeyhan, Serhat
dc.contributor.authorGezen, Fazlı Cem
dc.date.accessioned2022-04-15T09:07:28Z
dc.date.available2022-04-15T09:07:28Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Genel Cerrahi Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
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-gen-eration 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.
dc.identifier.citationAyaz, A., Yalçıntepe, S., Seyhan, S. ve Gezen, F. C. (2022). Importance of diagnosis in breast cancer with Non-BRCA pathogenic germline variants of cancer susceptibility genes using high-throughput sequencing analysis. Eurasian Journal of Medicine and Oncology, 6(1), 30-42. https://doi.org/10.14744/ejmo.2022.88057
dc.identifier.doi10.14744/ejmo.2022.88057
dc.identifier.endpage42
dc.identifier.issn2587-2400
dc.identifier.issue1
dc.identifier.scopus2-s2.0-85127097925
dc.identifier.scopusqualityN/A
dc.identifier.startpage30
dc.identifier.trdizinid521041
dc.identifier.urihttps://doi.org/10.14744/ejmo.2022.88057
dc.identifier.urihttps://hdl.handle.net/20.500.12511/9340
dc.identifier.volume6
dc.identifier.wos000820473900005en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.institutionauthorAyaz, Akif
dc.institutionauthorGezen, Fazlı Cem
dc.language.isoen
dc.publisherKare Publishing
dc.relation.ispartofEurasian Journal of Medicine and Oncologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution-NonCommercial 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/*
dc.subjectBreast Cancer
dc.subjectCancer Susceptibility
dc.subjectNon-BRCA1/2
dc.subjectTargeted Gene Analysis
dc.titleImportance of diagnosis in breast cancer with Non-BRCA pathogenic germline variants of cancer susceptibility genes using high-throughput sequencing analysis
dc.typeArticle

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