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Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience.

Melanoma research - 1 Dec 2025

Gironi Laura Cristina, Zottarelli Francesca, Esposto Elia, Cammarata Edoardo, Giorgione Giulia, Mellone Simona, Airoldi Chiara, Vurchio Denise, Borgonovi Giulia, Spano Alice, Giordano Mara, Savoia Paola

Abstract excerpt

Pathogenic variants in the CDKN2A gene are the most common genetic cause of hereditary melanoma, significantly increasing the risk of multiple melanomas at an early age and the incidence of noncutaneous tumors, particularly pancreatic cancer. Similarly, the MITF p.E318K variant is associated with an elevated risk of cutaneous melanoma, renal cell carcinoma, and pancreatic cancer. This study investigates the...

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Identifiers

PMID: 40623218
DOI: 10.1097/CMR.0000000000001054

Genes

CDKN2A
MITF

Variants

Provenance

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Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience.PMID 40623218Read ↗

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