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Article

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

Human molecular genetics - 15 Apr 2010

Bisio Alessandra, Nasti Sabina, Jordan Jennifer J, Gargiulo Sara, Pastorino Lorenza, Provenzani Alessandro, Quattrone Alessandro, Queirolo Paola, Bianchi-Scarrà Giovanna, Ghiorzo Paola, Inga Alberto

Abstract excerpt

Germline CDKN2A mutations are observed in 20-50% of melanoma-prone families. We identified melanoma patients that were heterozygous for non-coding germline variants in the 5'-UTR of CDKN2A (c.-21C > T; c.-25C > T&c.-180G > A; c.-56G > T; c.-67G > C) and examined their impact on the p16(INK4a) 5'-UTR activity using two luciferase-based reporter vectors that differ in basal transcription level and that were...

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PMID: 20093296
DOI: 10.1093/hmg/ddq022

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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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