UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.

doi:10.1016/j.ebiom.2023.104797

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Article

UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.

EBioMedicine - 1 Oct 2023

Liebmann Alexandra, Admard Jakob, Armeanu-Ebinger Sorin, Wild Hannah, Abele Michael, Gschwind Axel, Seibel-Kelemen Olga, Seitz Christian, Bonzheim Irina, Riess Olaf, Demidov German, Sturm Marc, Schadeck Malou, Pogoda Michaela, Bien Ewa, Krawczyk Malgorzata, Jüttner Eva, Mentzel Thomas, Cesen Maja, Pfaff Elke, Kunc Michal, Forchhammer Stephan, Forschner Andrea, Leiter-Stöppke Ulrike, Eigentler Thomas K, Schneider Dominik T, Schroeder Christopher, Ossowski Stephan, Brecht Ines B

Abstract excerpt

BACKGROUND: Genomic characterisation has led to an improved understanding of adult melanoma. However, the aetiology of melanoma in children is still unclear and identifying the correct diagnosis and therapeutic strategies remains challenging. METHODS: Exome sequencing of matched tumour-normal pairs from 26 paediatric patients was performed to study the mutational spectrum of melanomas. The cohort was grouped into...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 37716236
DOI: 10.1016/j.ebiom.2023.104797
PMCID: PMC10511785

Genes

MC1R
BRAF
CDKN2A
BRCA2
MITF
NRAS
PTEN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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