| BRCA1/2 | BReast CAncer susceptibility genes 1/2 |
| CNV | Copy Number Variant |
| DDM | Data-Driven Medicine |
| FFPE | Formalin-Fixed Paraffin-Embedded |
| HBOC | Hereditary Breast and Ovarian Syndrome |
| MLPA | Multiplex Ligation-dependent Probe Amplification |
| MAQ | Multiplex Amplicon Quantification |
| MPS | Massively Parallel Sequencing |
| NGS | Next Generation Sequencing |
| PGM | Personal Genome Medicine |
| VBA | Visual Basic for Applications |
| WGS | Whole Genome Sequencing |