About this Research Topic
Cutaneous melanoma is considered one of the most aggressive and treatment-resistant cancers. Although new therapies are currently available for metastatic disease, survival for patients with advanced disease is still poor.
Melanoma pathogenesis is complex and heterogeneous, with involvement of genetic, environmental and host factors. The majority of melanomas arise through the gradual accumulation of genetic abnormalities at the somatic level involving critical signaling pathways, such as MAPK, PI3K/AKT, pRB/p16INK4 and p53 pathways. Recently, a molecular classification has been proposed including BRAF-, NRAS-, NF1-mutated and Triple wild-type melanoma subgroups, according to the genetic candidate driver event. However, this fails to fully address the molecular complexity of melanoma, which is also driven by non-coding genetic and epigenetic alterations and/or by genomic rearrangements. The identification of tumor-specific genetic alterations in melanoma is currently one of the most active areas of melanoma research and several clinical trials using novel therapies targeting known dysregulated signaling pathways are ongoing.
Significant advances in melanoma genetics have been achieved thanks to new next-generation sequencing strategies that allow the identification of novel emerging molecular pathways by high-throughput sequencing analysis of large regions of the human genome.
Although the majority of melanomas occur in a sporadic context, an estimated 5-10% have a familial hereditary component. Germline susceptibility has been associated with mutations in high-penetrance melanoma predisposition genes, CDKN2A and less frequently in CDK4, BAP1, TERT, and POT1 genes or with variants in intermediate-risk genes, MC1R and MITF. In addition, new GWAS studies identified several low-risk loci with a role in melanoma development.
This Research Topic will draw attention to the current knowledge and potential future prospective of molecular genetics of cutaneous melanoma. We will welcome research articles and reviews analyzing all the molecular aspects of melanoma pathogenesis, including somatic and/or germline aspects, integration of molecular aspects and clinical features (diagnostic, prognostic features), identification of molecular biomarkers, molecular target therapies, molecular significance of drug resistance.
Melanoma pathogenesis is complex and heterogeneous, with involvement of genetic, environmental and host factors. The majority of melanomas arise through the gradual accumulation of genetic abnormalities at the somatic level involving critical signaling pathways, such as MAPK, PI3K/AKT, pRB/p16INK4 and p53 pathways. Recently, a molecular classification has been proposed including BRAF-, NRAS-, NF1-mutated and Triple wild-type melanoma subgroups, according to the genetic candidate driver event. However, this fails to fully address the molecular complexity of melanoma, which is also driven by non-coding genetic and epigenetic alterations and/or by genomic rearrangements. The identification of tumor-specific genetic alterations in melanoma is currently one of the most active areas of melanoma research and several clinical trials using novel therapies targeting known dysregulated signaling pathways are ongoing.
Significant advances in melanoma genetics have been achieved thanks to new next-generation sequencing strategies that allow the identification of novel emerging molecular pathways by high-throughput sequencing analysis of large regions of the human genome.
Although the majority of melanomas occur in a sporadic context, an estimated 5-10% have a familial hereditary component. Germline susceptibility has been associated with mutations in high-penetrance melanoma predisposition genes, CDKN2A and less frequently in CDK4, BAP1, TERT, and POT1 genes or with variants in intermediate-risk genes, MC1R and MITF. In addition, new GWAS studies identified several low-risk loci with a role in melanoma development.
This Research Topic will draw attention to the current knowledge and potential future prospective of molecular genetics of cutaneous melanoma. We will welcome research articles and reviews analyzing all the molecular aspects of melanoma pathogenesis, including somatic and/or germline aspects, integration of molecular aspects and clinical features (diagnostic, prognostic features), identification of molecular biomarkers, molecular target therapies, molecular significance of drug resistance.
Keywords: Melanoma, Genetics, Hereditary, somatic, germline, biomarker
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