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Article

Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.

Human mutation - 1 Sept 2008

Guedj Mickaël, Bourillon Agnès, Combadières Christophe, Rodero Mathieu, Dieudé Philippe, Descamps Vincent, Dupin Nicolas, Wolkenstein Pierre, Aegerter Philippe, Lebbe Céleste, Basset-Seguin Nicole, Prum Bernard, Saiag Philippe, Grandchamp Bernard, Soufir Nadem

Abstract excerpt

In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition. A cohort comprising 1,019 melanoma patients (MelanCohort) and 1,466 Caucasian controls without skin cancers were studied. A total of 10 polymorphisms, including five functional MC1R alleles (p.Asp84Glu, p.Arg142His, p.Arg151Cys, p.Arg160Trp, and p.Asp294His), two...

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Source

Identifiers

PMID: 18683857
DOI: 10.1002/humu.20823

Genes

OCA2

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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