| CNV | Copy number variation |
| CS | Cowden syndrome |
| EPCAM | Epithelial cell adhesion molecule |
| HBOC | Hereditary Breast and Ovarian Cancer syndrome |
| ICIs | Immune checkpoint inhibitors |
| IHC | Immunohistochemistry |
| LFS | Li-Fraumeni syndrome |
| LUS | Lower uterine segment |
| MLH1 | MutL homologue 1 |
| MLPA | Multiplex ligation-dependent probe amplification |
| MMR | mismatch repair |
| MSH2 | MutS homologue 2 |
| MSH6 | MutS homologue 6 |
| MSI | Microsatellite instability |
| MSI-H | Microsatellite instability high |
| MSI-L | Microsatellite instability low |
| MSS | Microsatellite stable |
| NCCN | National Comprehensive Cancer Network |
| ORR | Overall response rate |
| OS | Overall survival |
| PFS | Progression-free survival |
| PHTS | PTEN hamartoma tumour syndrome |
| PLSD | Prospective Lynch Syndrome Database |
| PMS2 | Postmeiotic segregation increased 2 |
| PTEN | Phosphatase and tensin homolog |
| RRH/BSO | Risk-reducing hysterectomy with bilateral salpingo-oophorectomy |
| TMB | Tumour mutational burden |
| TVUS | Transvaginal ultrasound |
| VUS | Variants of uncertain significance |