Table 1

Familial adult renal neoplasia

Molecular geneticsClinical features
DiseaseGene location/translocationGeneMain lesionsOther associated lesions
Von Hippel-Lindau disease (VHL)3p25 VHL Retinal haemangioma, CCRCC, cerebellar haemangioblastoma, phaeochromocytomaEndocrine pancreatic tumours, epididymal cystadenoma
Familial non-VHL CCRCC with chromosome 3 translocation3p14 FHIT CCRCCThyroid cancer, bladder cancer, pancreatic cancer, gastric cancer
3q13.3Unknown
3q21Unknown
Familial non-VHL CCRCC without chromosome 3 translocationUnknownUnknownCCRCC
Hereditary papillary RCC (HPRC)7q34 c-MET PRCC (type 1)Breast cancer, pancreatic cancer, biliary tract cancer, lung cancer, malignant melanoma
Hyperparathyroidism-jaw tumour (HPT-JT)1q21-q32UnknownParathyroid adenoma/carcinoma, ossifying jaw tumoursRenal cysts, renal hamartoma, adult Wilms tumours, PRCC (type 1)
Tuberous sclerosis complex (TSC)9q34 TSC1 Renal angiomyolipoma, rhabdomyomaCCRCC
16p13.3 TSC2
Birt-Hogg-Dube syndrome (BHD)17p12-q11.2UnknownMultiple fibrofolliculoma trichodiscoma, renal oncocytoma, chromophobe RCCPRCC (type 1), CCRCC, multiple lipoma, pulmonary cysts
Hereditary leiomyomatosis and renal cell cancer (HLPRC)1q42-q44UnknownUterine leiomyoma, PRCC (type 2)Uterine leiomyosarcoma, skin leiomyoma, breast cancer, bladder cancer
Familial papillary thyroid carcinoma-papillary renal neoplasia (FPTC-PRN)1q21UnknownPapillary thyroid carcinomaPRCC (type 1), papillary renal adenoma, renal oncocytoma
Familial oncocytoma (FO)UnknownUnknownRenal oncocytoma, renal cyst
Hereditary non-polyposis colorectal cancer (HNPCC)2p22-p21 hMSH2 Colorectal cancer, endometrial cancerGastric cancer, ovarian cancer, hepatobiliary cancer, renal pelvic and ureteral cancer (transitional cell), small intestine cancer
3p22-p21 hMLH1
2q31-q33 hPMS1
7p22 hPMS2
2p16 hMSH6