Table 3.
Actionable germline variants in urothelial carcinoma and potential therapeutic implications.
| Gene(s) | DRG pathway | Prevalence (%) | Germline syndrome/risks | Molecular-specific targeted treatment |
|---|---|---|---|---|
| MLH1, MSH2, MSH6, PMS2 | Mismatch repair | 5.9 | CNS cancer, colorectal cancer, duodenal cancer, endometrial cancer | Anti-PD1, PD-L1 |
| Monoallelic MUTYH | Other | 2 | Colorectal cancer | None |
| CHEK2 | HR | 2.8 | Breast cancer, colorectal cancer | None |
| APC | None | 0.1 | Colorectal cancer | None |
| TP53 | None | 0.2 | Breast cancer, colorectal cancer, melanoma, CNS tumors | None |
| ATM | HR | 1.6 | Breast cancer | None |
| RAD51C/D | HR/Fanconi | 0.2 | Ovarian cancer | None |
| PALB2 | HR | 0.6 | Breast cancer, prostate cancer | PARP inhibitors (?) |
| BRIP1 | HR | 0.8 | Ovarian cancer | None |
| BRCA1/2 | HR | 4.4 | Breast cancer, ovarian cancer, prostate cancer | PARP inhibitors (?) |
CNS central nervous system, DRG damage repair gene, HR homologous recombination.