High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.

ABSTRACT: Cutaneous melanoma is one of the most aggressive human cancers due to its high invasiveness. Germline mutations in high-risk melanoma susceptibility genes have been associated with development hereditary melanoma; however, most genetic culprits remain elusive. To unravel novel susceptibility genes for hereditary melanoma, we performed whole exome sequencing (WES) on eight patients with multiple primary melanomas, high number of nevi, and negative for high and intermediate-risk germline mutations. Thirteen new potentially pathogenic variants were identified after bioinformatics analysis and validation. CDH23, ARHGEF40, and BRD9 were identified as the most promising susceptibility genes in hereditary melanoma. In silico analysis of CDH23 and ARHGEF40 variants prov

SUBMITTER: Campos C 

PROVIDER: S-EPMC7230562 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature