Investigation of BRCA2 Gene K3326X Variant in Patients with Breast and Ovarian Cancer by Next-Generation Sequencing Technique

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dc.contributor.authorDüzkale, Neslihan
dc.contributor.authorKaraçin, Cengiz
dc.contributor.authorYörübulut, Serap
dc.contributor.authorErdem, Haktan Bağış
dc.contributor.authorÖz, Özlem
dc.contributor.authorAltınbaş, Mustafa
dc.date.accessioned2025-01-21T16:11:32Z
dc.date.available2025-01-21T16:11:32Z
dc.date.issued2023
dc.departmentKırıkkale Üniversitesi
dc.description.abstractINTRODUCTION: The BRCA2 gene is a tumor suppressor gene involved in the repair of double-stranded DNA damage by homologous recombination. Until now, many cancer-related variants of the BRCA2 gene have been reported. There are conflicting publications in studies of the possible effect of the K3326X variant of this gene in cancer. This study investigates the K3326X BRCA2 gene variant and its role in the cancer pathogenesis of Turkish patients diagnosed with breast and ovarian cancer. METHODS: In the study, 1957 patients with cancer diagnosis for BRCA1 and BRCA2 genetic analysis and 432 healthy individuals without a history of cancer were included. The K3326X variant was investigated using the next-generation sequencing method from the genomic DNA sample obtained from the individuals. RESULTS: K3326X variant was detected in 54 of 1957 (2.75%) cancer patients. For the non-cancerous group, 11 of 432 (2.5%) patients were carrying the K3326X variant. When both groups were compared in terms of K3326X variant carriage, a statistically significant result could not be obtained for the individuals (p=0.934). DISCUSSION AND CONCLUSION: BRCA2 K3326X variant did not have a significant role in cancer etiopathogenesis. As a result, the variant whose clinical significance is not still been fully understood, was investigated for the first time for Turkish population. Our results suggest that the variant could be a benign variant.
dc.identifier.doi10.5505/aot.2023.68815
dc.identifier.endpage152
dc.identifier.issn0304-596X
dc.identifier.issn2148-7669
dc.identifier.issue2
dc.identifier.startpage145
dc.identifier.trdizinid1210548
dc.identifier.urihttps://doi.org/10.5505/aot.2023.68815
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1210548
dc.identifier.urihttps://hdl.handle.net/20.500.12587/21514
dc.identifier.volume56
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.relation.ispartofACTA ONCOLOGICA TURCICA
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectTıbbi Araştırmalar Deneysel
dc.subjectPatoloji
dc.subjectOnkoloji
dc.titleInvestigation of BRCA2 Gene K3326X Variant in Patients with Breast and Ovarian Cancer by Next-Generation Sequencing Technique
dc.typeArticle

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