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A study of 106 familial melanoma cases (defined as at least two melanoma cases or MPM in the proband) found that 47% of MPM cases and 58% of familial melanoma cases carried this TERT promoter variant.[50,124] POT1 Exome and genome-sequencing in individuals from hereditary melanoma families led to the identification of missense pathogenic variants in POT1 that segregate with disease in numerous studies.[125,126] A POT1 Ser270Asn missense pathogenic variant was found in 5 of 56 unrelated melanoma families from Italy.[125] This variant was not observed in over 2,000 Italian controls

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Xu et al., 2022

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