Truncating mutations, including frameshift deletions and nonsense mutations, occurred in BRCA2, FANCC and ERCC4. The ERCC4 nonsense mutation (p.Cys723*) was found in two patients, who were diagnosed with giant cell tumor of bone and alveolar rhabdomyosarcoma at 16- and 24-years-old respectively (Table 2). The gene discussed is BRCA2; the disease is bone giant cell tumor.