Genotype- dermatological phenotype correlations in CDKN2A , POT1 , POLE , BAP1 variant carriers using 3D total-body-imaging

This international study uses 3D total-body imaging to provide the first objective genotype–phenotype characterisation of naevus burden, size, and anatomical distribution in carriers of CDKN2A, POT1, POLE, and BAP1 variants. We identify distinct, gene-specific dermatological phenotypes, particularly increased naevus counts in POT1 and POLE carriers that are largely independent of ultraviolet damage, distinguishing variant carriers from controls. These findings establish objective phenotypic markers of inherited melanoma susceptibility with direct relevance for risk stratification and targeted genetic testing in clinical practice.