Review Article
Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis
Table 1
Main hereditary urological cancer syndromes due to germline mutations.
| | Disorder (incidence) | Gene | Tumor type |
| | Renal cell cancer | | Von Hippel–Lindau syndrome (1 : 40,000) | VHL | ccRCC | | Birt–Hogg–Dube syndrome (n/a) | FLCN | pRCC, chRCC, OC | | HPRC (n/a) | MET | pRCC type I | | HLRCC (n/a) | FH | pRCC type II | | BAP1-TPDS (n/a) | BAP1 | ccRCC | | Hereditary paraganglioma (1 : 1,200,000) | SDHA/B/C/D/AF2 | pRCC, ccRCC | | Tuberous sclerosis (1 : 6,000–10,000) | TSC1/2 | AML | | Other monogenic forms of RCC (n/a) | PBRM1, FHIT:RNF139 | ccRCC |
| | Prostate cancer | | Lynch syndrome in men with PC (n/a) | MLH1, MSH2, MSH6, PMS2 | AC | | Hereditary male breast cancer/PC (n/a) | BRCA1/2, CHEK2, ATM | AC |
| | Bladder cancer | | Lynch syndrome (on average, 1 : 1,000) | MLH1, MSH2, MSH6, PMS2 | UC |
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Abbreviations: ccRCC, clear cell renal cell carcinoma; pRCC, papillary renal cell carcinoma; chRCC, chromophobe renal cell carcinoma; OC, oncocytoma; AML, angiomyolipoma; AC, adenocarcinoma; UC, urothelial carcinoma; HPRC, hereditary papillary renal carcinoma type 1; HLRCC, hereditary leiomyomatosis and renal cell carcinoma; BAP1-TPDS, BAP1 tumor predisposition syndrome; n/a, not available.
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