Association of the POT1 germline missense variant p. I78T with familial melanoma

K Wong, CD Robles-Espinoza, D Rodriguez… - JAMA …, 2019 - jamanetwork.com
Importance The protection of telomeres 1 protein (POT1) is a critical component of the
shelterin complex, a multiple-protein machine that regulates telomere length and protects
telomere ends. Germline variants inPOT1have been linked to familial melanoma, and
somatic mutations are associated with a range of cancers including cutaneous T-cell
lymphoma (CTCL). Objective To characterize pathogenic variation inPOT1in families with
melanoma to inform clinical management. Design, Setting, and Participants In this case …