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