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Table 1. Hereditary Renal Cell Cancer (RCC) Syndromes and Susceptibility Genes

Syndrome (Inheritance Pattern) Gene Locus, Gene Type (Protein) Renal Tumor Pathology (Cumulative Cancer Risk) Non-renal Tumors and Associated Abnormalities 
von Hippel-Lindau syndrome (VHL) (AD)VHL 3p26, tumor suppressor (pVHL)ccRCC (multifocal) (28%–45%)CNS hemangioblastoma, retinal angiomas, pheochromocytoma, pancreatic neuroendocrine tumor, endolymphatic sac tumor, cystadenoma of epididymis and broad ligament
Hereditary leiomyomatosis and renal cell cancer (HLRCC) (AD)FH 1q42.1, tumor suppressor (fumarase)‘HLRCC-type RCC’ may be new entity (formerly called papillary type 2) (unknown frequency)Cutaneous leiomyomas, uterine leiomyomas (fibroids)
Birt-Hogg-Dubé syndrome (BHD) (AD)FLCN 17p11.2, tumor suppressor (folliculin)Chromophobe oncolytic hybrid, papillary clear cell oncocytoma (8%–15%)Cutaneous: fibrofolliculomas, trichodiscomas, acrochordons
Pulmonary: lung cysts, spontaneous pneumothoraces
Hereditary papillary renal cancer (HPRC) (AD)MET 7q34, proto-oncogene (hepatocyte growth factor receptor)Papillary type 1 (19%)None known

AD = autosomal dominant; ccRCC = clear cell renal cell cancer; CNS = central nervous system.
Merck Manual 18th edition.[1]
Lindor et al.[2]; Rennebeck et al.[3]


  1. Beers M, Porter R, Jones T: The Merck Manual of Diagnosis and Therapy. 18th ed. Rahway, NJ: Merck Sharp & Dohme Research Laboratories, 2006. 

  2. Lindor NM, McMaster ML, Lindor CJ, et al.: Concise handbook of familial cancer susceptibility syndromes - second edition. J Natl Cancer Inst Monogr (38): 1-93, 2008.  [PUBMED Abstract]

  3. Rennebeck G, Kleymenova EV, Anderson R, et al.: Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development. Proc Natl Acad Sci U S A 95 (26): 15629-34, 1998.  [PUBMED Abstract]