dc.contributor.author | Ayaz, Akif | |
dc.contributor.author | Yalçıntepe, Sinem | |
dc.contributor.author | Seyhan, Serhat | |
dc.contributor.author | Gezen, Fazlı Cem | |
dc.date.accessioned | 2022-04-15T09:07:28Z | |
dc.date.available | 2022-04-15T09:07:28Z | |
dc.date.issued | 2022 | en_US |
dc.identifier.citation | Ayaz, 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 | en_US |
dc.identifier.issn | 2587-2400 | |
dc.identifier.uri | https://doi.org/10.14744/ejmo.2022.88057 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12511/9340 | |
dc.description.abstract | Objectives: 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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Kare Publishing | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.rights | Attribution-NonCommercial 4.0 International | * |
dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0/ | * |
dc.subject | Breast Cancer | en_US |
dc.subject | Cancer Susceptibility | en_US |
dc.subject | Non-BRCA1/2 | en_US |
dc.subject | Targeted Gene Analysis | en_US |
dc.title | Importance of diagnosis in breast cancer with Non-BRCA pathogenic germline variants of cancer susceptibility genes using high-throughput sequencing analysis | en_US |
dc.type | article | en_US |
dc.relation.ispartof | Eurasian Journal of Medicine and Oncology | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Genel Cerrahi Ana Bilim Dalı | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı | en_US |
dc.authorid | 0000-0001-6930-7148 | en_US |
dc.identifier.volume | 6 | en_US |
dc.identifier.issue | 1 | en_US |
dc.identifier.startpage | 30 | en_US |
dc.identifier.endpage | 42 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.doi | 10.14744/ejmo.2022.88057 | en_US |
dc.institutionauthor | Ayaz, Akif | |
dc.institutionauthor | Gezen, Fazlı Cem | |
dc.identifier.wos | 000820473900005 | en_US |
dc.identifier.scopus | 2-s2.0-85127097925 | en_US |
dc.identifier.trdizinid | 521041 | en_US |