Table 2.
Genes with the highest prevalence of pathogenic variants in patients with urothelial carcinoma.
| Genes | Pathogenic variants detected | Total number of requisitions per gene | Pathogenic variants per requisition, %a | Penetrance |
|---|---|---|---|---|
| MSH2 | 34 | 969 | 3.5% | High |
| FANCC | 2 | 60 | 3.3% | Low |
| BRCA1 | 20 | 867 | 2.3% | High |
| BRCA2 | 18 | 867 | 2.1% | High |
| MUTYH | 15 | 754 | 2.0% | Low |
| ATM | 13 | 827 | 1.6% | Moderate |
| CHEK2 (LOF) | 12 | 862 | 1.4% | Moderate |
| CHEK2 p.Ile157Thr | 12 | 862 | 1.4% | Low |
| FH | 5 | 390 | 1.3% | Low |
| MITF | 4 | 339 | 1.2% | Moderate |
| MLH1 | 10 | 957 | 1.0% | High |
LOF loss of function.
aPercentages of pathogenic variants per total gene requisitions are calculated as the number of pathogenic variants in a gene divided by the total number of requisitions for that gene.