In the cohort described by Maranchie et al., the frequency of RCC was 52.3% in VHL deletion families that retained BRK1 versus 18.9% in those that lost BRK1. In a cohort of 18 VHL deletion probands reported by Cascon et al. (2007), 10 patients who presented with RCC inherited deletions that retained BRK1 whereas six of eight who did not develop RCC carried deletions that included the BRK1 gene. The gene discussed is VHL; the disease is renal cell carcinoma.