2023
DOI: 10.3390/ijms242115830
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Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients

Bianca Costa Soares de Sá,
Luciana Facure Moredo,
Giovana Tardin Torrezan
et al.

Abstract: 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 with clinical criteria for familial melanoma syndrome. We selected patients with three or more melano… Show more

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