Five Years of Genetic Counseling for Hereditary Cancer Syndromes: Insights from a Bulgarian Center

This investigation delivers a 5-year review, looking backward, at the provision of genetic counseling (GC) focused on hereditary cancer syndromes (HCS) within a single Bulgarian center. The intention was to map the demographic and epidemiological contours of attendees, gauge willingness to proceed to genetic testing, and catalog the array of disease-linked mutations detected. The trends point toward progressively greater engagement with GC. Prominent observations include divergent characteristics between those evaluated for overarching HCS risk and those whose workup began with tumor biomarker assays, the degree to which out-of-pocket costs shaped testing decisions, and the identification of a harmful mutation in 28% of those screened. Hereditary Breast and Ovarian Cancer Syndrome, along with Lynch Syndrome, surfaced most often, with culpable alterations pinpointed in loci such as BRCA1, MSH2, PALB2, and STK11. What emerges from these data is a clear call to broaden awareness, remove financial hurdles to testing, and put in place formal cascade testing pathways across Bulgaria.