Testing round | Testing workflow | Methods | Results |
---|---|---|---|
I | Targeted screening using PCR-based technology | TaqMan SNP Genotyping Assays | Negative for selected variants* |
II | Searching for new pathogenic variants using NGS | NGS of BRCA1/BRCA2 exons | Pathogenic variant (C1501X) found |
III | Validation and cascade screening | Sanger direct sequencing | Validation in the index patient and mutation found in seven out of eight studied relatives # |