Functional characterisation of selected RCC risk loci have provided evidence for local biological mechanisms underlying specific associations, including allele-specific expression of CCND1 (11q13.3)7,8, BHLHE41 (12p12.1)9, and DPF3 (14q24)10, as well as differential binding of HIF transcription factors and PAX8 in an allele-dependent manner11–13. The gene discussed is CCND1; the disease is renal cell carcinoma.