Genotype- dermatological phenotype correlations in <i>CDKN2A</i> , <i>POT1</i> , <i>POLE</i> , <i>BAP1</i> 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.
Authors
- Ellie J. Maas (ORCID: https://orcid.org/0000-0002-1035-7279)
- Vanessa R. Weir (ORCID: https://orcid.org/0000-0002-7338-4784)
- Nicholas R. Kurtansky (ORCID: https://orcid.org/0000-0002-6745-0386)
- Clare Primiero (ORCID: https://orcid.org/0000-0002-2944-0013)
- Brigid Betz‐Stablein (ORCID: https://orcid.org/0000-0003-3876-501X)
- Adam Mothershaw (ORCID: https://orcid.org/0000-0002-0056-8187)
- Aideen M McInerney-Leo (ORCID: https://orcid.org/0000-0002-0059-5732)
- Sam Kahler (ORCID: https://orcid.org/0000-0001-9680-3120)
- Susana Puig (ORCID: https://orcid.org/0000-0003-1337-9745)
- V. Rotemberg
- Maura C. Gillis
- J. Berkman
- Emily De Bortoli
- H Peter Soyer
- Miriam Portony
- Josep Malvehy
- Cristina Carrera
- Paula Aguilera
- Laura Serra-García
- Thi Pham
Institutions
- Memorial Sloan Kettering Cancer Center (US)
- The University of Queensland (AU)
- Centro de Investigación Biomédica en Red (ES)
- Hospital Clínic de Barcelona (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-04-10
- DOI
- https://doi.org/10.1093/bjd/ljag137
- Primary Topic
- Cutaneous Melanoma Detection and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00