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Article

Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.

Melanoma research - 1 Jun 2017

Pellegrini Cristina, Maturo Maria Giovanna, Martorelli Claudia, Suppa Mariano, Antonini Ambra, Kostaki Dimitra, Verna Lucilla, Landi Maria Teresa, Peris Ketty, Fargnoli Maria Concetta

Abstract excerpt

Genetic susceptibility to cutaneous melanoma has been investigated in Italian high-risk melanoma patients from different geographical regions. CDKN2A, CDK4, and MC1R genes have been screened in most studies, MITF and POT1 were screened in only one study, and none analyzed the TERT promoter. We carried out a mutational analysis of CDKN2A, CDK4 exon 2, POT1 p.S270N, MITF exon 10, MC1R, and the TERT promoter in 106...

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Source

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Identifiers

PMID: 28146043
DOI: 10.1097/CMR.0000000000000323
PMCID: PMC7050442

Genes

TERT
CDK4
MITF
POT1

Variants

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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