Our findings suggest that functional SNPs in MMP1/MMP3 can influence susceptibility to RCC in familial (VHL disease) and sporadic patients and that MMP1 rs1799750 and MMP3 rs679620 genotypes can also influence the risk of retinal angioma and cerebellar haemangioblastoma in VHL disease. The gene discussed is MMP1; the disease is renal cell carcinoma.