Moreover, in a recent study focusing on pathogenic osteosarcoma germline mutations, five POT1 germline variants (p.Asp42Tyr, p.Gln376Arg, p.Leu69Phe, p.Asp617fs; p. and c.670G > A) were detected (n = 5/1004) [102]. The gene discussed is POT1; the disease is osteosarcoma.