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Article

Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.

International journal of molecular sciences - 31 Oct 2023

Soares de Sá Bianca Costa, Moredo Luciana Facure, Torrezan Giovana Tardin, Fidalgo Felipe, de Araújo Érica Sara Souza, Formiga Maria Nirvana, Duprat João Pereira, Carraro Dirce Maria

Abstract excerpt

Increased genetic risk for melanoma can occur in the context of germline pathogenic variants in high-penetrance genes, such as CDKN2A and CDK4, risk variants in low- to moderate-penetrance genes (MC1R and MITF), and possibly due to variants in emerging genes, such as ACD, TERF2IP, and TERT. We aimed to identify germline variants in high- and low- to moderate-penetrance melanoma risk genes in Brazilian patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37958811
DOI: 10.3390/ijms242115830
PMCID: PMC10649559

Provenance

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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