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Article

POT1 and multiple primary melanomas: the dermatological phenotype.

Journal of medical genetics - 29 Aug 2024

Maas Ellie J, DeBortoli Emily, Nathan Vaishnavi, Freeman Ned P, Mothershaw Adam, Smit Darren J, Betz-Stablein Brigid, Aoude Lauren G, Stark Mitchell S, Sturm Richard A, Soyer H Peter, McInerney-Leo Aideen M

Abstract excerpt

POT1 is the second most frequently reported gene (after CDKN2A) in familial melanoma. Pathogenic variants are associated with earlier onset and/or multiple primary melanomas (MPMs). To date, POT1 phenotypical reports have been largely restricted to associated malignancies, and description of the dermatological landscape has been limited. We identified 10 variants in n=18 of 384 (4.7%) unrelated individuals (n=13...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Melanoma

Share to Neoplasms, Multiple Primary

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Share to Shelterin Complex

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Source

Identifiers

PMID: 38724174
DOI: 10.1136/jmg-2023-109637

Genes

POT1
CDKN2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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