Development of Genetic Testing Strategies for Hereditary Breast and Ovarian Cancer Risk Prediction by Analysis of Spectrum of Predisposing Mutations and Their Phenotypic Manifestations: Clinical Data

The clinical data of retrospective cohort were collected to calculate Manchester score and CanRisk tool value for all breast and ovarian cancer cases. The NGS targeted panel including 9 genes was performed for samples with previously negative genetic testing results and available biological material. Pathogenicity of genetic variants were classified using a standardized framework developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP). Pathogenic variant description at genomic/coding/protein level according to HGVS recommendations.