| AAD | age at first diagnosis |
| ACMG | American College of Medical Genetics |
| BC | breast cancer |
| CCG | Cologne Center for Genomics |
| CI | confidence interval |
| CNV | copy number variation |
| ER | estrogen receptor |
| ExAC | Exome Aggregation Consortium |
| FH | family history |
| GC-HBOC | German Consortium for Hereditary Breast and Ovarian Cancer |
| HER2 | human epidermal growth factor receptor 2 |
| IARC | International Agency for Research on Cancer |
| mBC | male breast cancer |
| MLPA | multiplex ligation-dependent probe amplification |
| NCCN | National Comprehensive Cancer Network |
| NFE | non-Finnish European |
| NGS | next-generation sequencing |
| PR | progesterone receptor |
| PTV | protein-truncating variant |
| PV | pathogenic variant |
| OC | ovarian cancer |
| OR | odds ratio |
| TCGA | The Cancer Genome Atlas |
| VUS | variant of uncertain significance |