Review Article
Familial Renal Cancer: Molecular Genetics and Surgical Management
Table 1
Familial renal cancer syndromes.
| Syndrome | Phenotype | Renal cancer manifestation | Gene | Chromosome | Mendelian Inheritance in Man (MIM) number |
| Von Hippel-Lindau (VHL) | Renal tumors, adrenal pheochromocytomas, retinal angiomas, central nervous system hemangioblastomas, pancreatic cysts and neuroendocrine tumors, endolymphatic sac tumors, epididymal and broad ligament cystadenomas | Clear cell renal cell carcinoma | VHL | 3p25 | 193300 |
| Hereditary papillary renal carcinoma (HPRC) | Bilateral, multifocal renal tumors | Papillary renal cell carcinoma type 1 | MET | 7q31 | 164860 |
| Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) | Skin and uterine leiomyomas, renal tumors | Papillary renal cell carcinoma type 2 | FH | 1q42-43 | 605839 |
| Birt-Hogg-Dubé (BHD) | Cutaneous fibrofolliculomas, lung cysts, spontaneous pneumothorax, renal tumors | Hybrid oncocytic, chromophobe, and clear cell renal cell carcinoma; oncocytoma | FLCN | 17p11 | 135150 |
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