Wong K, et al. - In this case study and pedigree evaluation, researchers described pathogenic variation in Protection of Telomeres 1 gene (POT1) in families with melanoma to better guide clinical management. The POT1 p. I78 T variant was found in three pedigrees of melanoma, all of persons self-reporting Jewish descent, and it disrupted the binding of POT1-telomer binding. According to findings, POT1 p. I78 T is a newly identified, probably pathogenic, variant warranting screening in melanoma families following the exclusion of more common genes of predisposition such as CDKN2A. As part of gene panel testing, it could also be included.