POT1 and neoplasm: Whole-exome sequencing or targeted sequencing of the DNA of 1244 patients with OS from 10 participating international centers or studies revealed that approximately one-fourth of patients with OS, unselected for family history, had a highly penetrant germline mutation in genes not previously linked to the tumor (e.g., CDKN2A; Menin 1, MEN1; VHL; Protection Of Telomeres 1, POT1; APC; MutS Homolog 2, MSH2 and ATRX) and in the Li-Fraumeni syndrome-associated gene, TP53 [169].