Overall, a large proportion of mutated cases (14/34 = 41%) had a novel or rare variant affecting at least one of the four PI3K/Akt genes (N = 12) identified from our agnostic approach, or the RCC susceptibility gene TSC1 (N = 2) that belongs to the same axis (Figure 2). The gene discussed is TSC1; the disease is renal cell carcinoma.