Research Topic

Molecular Genetics of Cutaneous Melanoma: Current Status and Future Direction

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.


Keywords: Melanoma, Genetics, Hereditary, somatic, germline, biomarker


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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.


Keywords: Melanoma, Genetics, Hereditary, somatic, germline, biomarker


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Topic Editors

Loading..

Submission Deadlines

31 July 2019 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

Loading..

Topic Editors

Loading..

Submission Deadlines

31 July 2019 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

Loading..
Loading..

total views article views article downloads topic views

}
 
Top countries
Top referring sites
Loading..

Comments

Loading..

Add a comment

Add comment
Back to top
);