ArticleOncology reviews2025
Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria.
Article in Oncology reviews, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Premarital Preventive Examinations and Access to Genetic Counselling in the South-Central Region of Bulgaria: Implications for Preconception and Child Health.Healthcare (Basel, Switzerland) · 2026Article
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.International journal of molecular sciences · 2026Article
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Authors and funding
5 authors.
Funding
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Abstract
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
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