Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria
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 spec...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-07-01
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| Series: | Oncology Reviews |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/or.2025.1605606/full |
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| author | Mari Hachmeriyan Mari Hachmeriyan Mariya Levkova Mariya Levkova Dinnar Yahya Dinnar Yahya Milena Stoyanova Milena Stoyanova Eleonora Dimitrova |
| author_facet | Mari Hachmeriyan Mari Hachmeriyan Mariya Levkova Mariya Levkova Dinnar Yahya Dinnar Yahya Milena Stoyanova Milena Stoyanova Eleonora Dimitrova |
| author_sort | Mari Hachmeriyan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2392cb045a8f40f4aedc26b91c090ceb |
| institution | Kabale University |
| issn | 1970-5557 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Oncology Reviews |
| spelling | doaj-art-2392cb045a8f40f4aedc26b91c090ceb2025-08-20T03:55:48ZengFrontiers Media S.A.Oncology Reviews1970-55572025-07-011910.3389/or.2025.16056061605606Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in BulgariaMari Hachmeriyan0Mari Hachmeriyan1Mariya Levkova2Mariya Levkova3Dinnar Yahya4Dinnar Yahya5Milena Stoyanova6Milena Stoyanova7Eleonora Dimitrova8Medical University Varna, Department of Medical Genetics, Varna, BulgariaLaboratory of Medical Genetics, University Hospital “Sveta Marina”, Varna, BulgariaMedical University Varna, Department of Medical Genetics, Varna, BulgariaLaboratory of Medical Genetics, University Hospital “Sveta Marina”, Varna, BulgariaMedical University Varna, Department of Medical Genetics, Varna, BulgariaLaboratory of Medical Genetics, University Hospital “Sveta Marina”, Varna, BulgariaMedical University Varna, Department of Medical Genetics, Varna, BulgariaLaboratory of Medical Genetics, University Hospital “Sveta Marina”, Varna, BulgariaMedical University Varna, Department of Oncology, Varna, BulgariaThis 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.https://www.frontiersin.org/articles/10.3389/or.2025.1605606/fullhereditary cancertumor predisposition syndromesgenetic counselinggenetic testingHBOCLynch Syndrome |
| spellingShingle | Mari Hachmeriyan Mari Hachmeriyan Mariya Levkova Mariya Levkova Dinnar Yahya Dinnar Yahya Milena Stoyanova Milena Stoyanova Eleonora Dimitrova Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria Oncology Reviews hereditary cancer tumor predisposition syndromes genetic counseling genetic testing HBOC Lynch Syndrome |
| title | Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria |
| title_full | Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria |
| title_fullStr | Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria |
| title_full_unstemmed | Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria |
| title_short | Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria |
| title_sort | genetic counseling for hereditary cancer syndromes a 5 year experience from a single center in bulgaria |
| topic | hereditary cancer tumor predisposition syndromes genetic counseling genetic testing HBOC Lynch Syndrome |
| url | https://www.frontiersin.org/articles/10.3389/or.2025.1605606/full |
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