ORIGINAL RESEARCH article
Oncol. Rev.
Sec. Oncology Reviews: Original Research
Volume 19 - 2025 | doi: 10.3389/or.2025.1605606
This article is part of the Research TopicUnraveling Germline Mutations: Advances in Genetic Profiling for Cancer RiskView all articles
Genetic Counseling for Hereditary Cancer Syndromes: A 5-Year Experience from a Single Center in Bulgaria
Provisionally accepted
- Medical University of Varna, Varna, Bulgaria
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This study presents a 5-year retrospective analysis of genetic counseling (GC) services for hereditary cancer syndromes (HCS) at a single center in Bulgaria. The aim is to describe the demographic and epidemiological characteristics of patients seeking GC, the uptake of genetic testing, and the spectrum of identified pathogenic variants. The results highlight an increasing trend in GC utilization. Key findings include differences in patient profiles between those seeking general HCS assessment and those undergoing tumor biomarker testing, the impact of financial accessibility on genetic testing uptake, and a pathogenic variant detection rate of 28% in tested individuals. The most frequently identified conditions were Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome, with pathogenic variants detected in genes such as BRCA1, MSH2, PALB2, and STK11. These findings underscore the need for enhanced awareness, improved financial access to testing, and the establishment of systematic cascade screening programs in Bulgaria.
Keywords: Hereditary cancer, Tumor predisposition syndromes, Genetic Counseling, Genetic Testing, HBOC, Lynch Syndrome
Received: 03 Apr 2025; Accepted: 03 Jul 2025.
Copyright: © 2025 Hachmeriyan, Levkova, Yahya, Stoyanova and Dimitrova. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Mari Hachmeriyan, Medical University of Varna, Varna, Bulgaria
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