129P Germline POT1 mutations in angiosarcoma are different from somatic

Protection of Telomeres Protein 1, (POT1) protein, is a component of the shelterin telomere complex, which is involved in regulating telomere length. Genomic mutations in POT1 compromise chromosomal stability, leading to impaired cellular aging and apoptosis. POT1 tumor predisposition syndrome (POT1-TPD) is caused by point mutations in POT1, with the POT1/R117C mutation being the most well-recognized. This mutation results in abnormally long telomeres and is associated with an increased risk of familial cutaneous melanoma, angiosarcoma (AS), glioma and chronic lymphocytic leukemia.