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Article

Unusual suspects in hereditary melanoma: POT1, POLE, BAP1.

Trends in genetics : TIG - 1 Dec 2022

Maas Ellie J, Betz-Stablein Brigid, Aoude Lauren G, Soyer H Peter, McInerney-Leo Aideen M

Abstract excerpt

Systematic literature searches on POT1/POLE/BAP1 found that limited skin phenotypic characteristics have been documented in mutation carriers; 248 variants were annotated, and high-cluster variant regions associated with cutaneous melanoma were found in all three genes. Genotype-phenotype correlations can be used to identify patient disease predisposition based on mutation position and cluster regions.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35811174
DOI: 10.1016/j.tig.2022.06.007

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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