A number of recurrent cancer hotspot MTOR variants were commonly found in these studies, including c.6644C>T (p.Ser2215Phe), c.6644C>A (p.Ser2215Tyr) and c.4379T>C (p.Leu1460Pro), all of which were previously found to confer mTOR pathway hyperactivation [56]. Here, MTOR is linked to cancer.