The Genetic Germline Background of Single and Multiple Primary Melanomas

Summa, Simona De; Lasorella, Antonia; Strippoli, Sabino; Giudice, Giuseppe; Guida, Gabriella; Nacchiero, Eleonora; Azzariti, Amalia; Silvestris, Nicola; Guida, Michele; Guida, Stefania; Tommasi, Stefania; Pinto, Rosamaria

doi:10.3389/fmolb.2020.555630

Cited by 6 publications

(7 citation statements)

References 41 publications

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“…A study of multiple biological pathways showed that single nucleotide polymorphisms (SNPs) near CYP1B1, which is a nevus gene, reached global significance in a bivariate analysis examining melanoma risk (18). Recent research has shown that certain germline mutations, such as CYP1B1, may contribute to the differential development of melanoma susceptibility (19). In 2016, Sumantran et al reported that CYP1B1, which metabolizes most anti-cancer drugs, was more downregulated in melanoma samples than normal skin samples.…”

Section: Discussionmentioning

confidence: 99%

Identification of significant genes with a poor prognosis in skin cutaneous malignant melanoma based on a bioinformatics analysis

Wang¹,

Yang²

2022

Ann Transl Med

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Background: Skin cutaneous malignant melanoma (SKCM) is a deadly mutated malignancy that arises from melanocytes in the basal layer of the skin. This study sought to identify effective treatment targets that could serve as prospective therapeutic targets to improve patient outcomes.Methods: The GSE83583, GSE111766, and GSE104849 data sets from the GPL10558 platform in the Gene Expression Omnibus (GEO) were used in this study. The candidate genes were identified using the GEO2R tool and a Venn diagram. The Gene Ontology (GO) enrichment and Kyoto Encyclopedia of Gene and Genome (KEGG) preliminary analyses of the differentially expressed genes (DEGs) were conducted using the Database for Annotation, Visualization and Integrated Discovery, and R software. The proteinprotein interaction (PPI) network was examined using Cytoscape software. The survminer package was used to examine the overall survival of patients with the identified genes. The Human Protein Atlas (HPA) was used to verify the protein levels of significant genes with poor prognosis. The highly expressed genes in the melanoma tissues were visualized using the ggplot2 package.Results: In total, 160 DEGs from 124 melanoma tissues and 9 normal melanocyte tissues were examined in this study. Cytoscape displayed 19 central nodes from the 160 DEGs. The re-analysis showed that the cytochrome P450 family 1 subfamily B member 1 (CYP1B1) and protein kinase C beta (PRKCB) were significantly enriched in the micro ribonucleic acids (RNAs) in cancer.Conclusions: CYP1B1 and PRKCB were overexpressed in and correlated with the poor prognosis of SKCM. Our findings might help explore the prognosis and diagnostic markers of SKCM.

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Section: Discussionmentioning

confidence: 99%

Identification of significant genes with a poor prognosis in skin cutaneous malignant melanoma based on a bioinformatics analysis

Wang¹,

Yang²

2022

Ann Transl Med

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“…Each sequencing sample was loaded on an Ion 318 Chip Kit v2 BC (Thermo Fisher Scientific, Waltham, MA, USA) and sequenced on an Ion Torrent Personal Genome Machine (PGM) (Thermo Fisher Scientific, Waltham, MA, USA) for 1250 flows using an Ion PGM Hi Q Sequencing Kit (Thermo Fisher Scientific, Waltham, MA, USA) [ 13 ]. The Ion Torrent PGM was used along with the specific pipeline software Torrent Suite v 5.0 (Thermo Fisher Scientific, Waltham, MA, USA) to generate sequence reads, trim adapter sequences, and filter and remove poor-signal profile reads from the sequencing data [ 14 ]. The primer-trimmed files were then imported into Quantitative Insights Into Microbial Ecology 2 (QIIME2) v. 2020.11 software [ 15 , 16 ] for microbiota analysis.…”

Section: Methodsmentioning

confidence: 99%

Geographical Relationships between Long-Tailed Goral (Naemorhedus caudatus) Populations Based on Gut Microbiome Analysis

Park

Cho²,

Kim

et al. 2021

Microorganisms

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The long-tailed goral (Naemorhedus caudatus) is an endangered species found in the mountains of eastern and northern Asia. Its populations have declined for various reasons, and this species has been designated as legally protected in South Korea. Although various ecological studies have been conducted on long-tailed gorals, none have investigated the gut microbiome until now. In the present study, we compared the diversity and composition of the gut microbiome of seven populations of Korean long-tailed gorals. By analyzing the gut microbiome composition for each regional population, it was found that four phyla—Firmicutes, Actinobacteriota, Bacteroidota, and Proteobacteria—were the most dominant in all regions on average. The alpha diversity of the gut microbiome of the goral population in the northern regions was high, while that in the southern regions was low. Through the analysis of beta diversity, the seven long-tailed goral populations have been divided into three groups: the Seoraksan population, the Samcheock population, and the Wangpicheon population. It was possible to confirm the regional migration of the animals using the gut microbiome based on the site-relational network analysis. It was found that the most stable population of long-tailed gorals in Korea was the Seoraksan population, and the closely related groups were the Samcheok and Wangpicheon populations, respectively. Wangpicheon appeared to be a major point of dispersal in the migration route of Korean long-tailed gorals.

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“…Genome-wide association studies (GWAS) and meta-analyses have widely demonstrated the association of RHC variants with increased risk of melanoma [ 124 , 138 , 139 , 140 , 141 ] and NMSCs [ 71 , 124 , 131 , 142 , 143 ]. These associations were initially related to the pigmentary functions of MC1R , although many studies confirmed that the increased skin cancer susceptibility in MC1R carriers is independent from pigmentary traits [ 28 , 71 , 144 , 145 , 146 ].…”

Section: Mc1r and Skin Cancers Riskmentioning

confidence: 99%

“…Germline MC1R variants may influence the mutational landscape of melanoma [ 146 , 156 ]. Despite the well-established impact of MC1R on skin cancer risk and development, the association of MC1R variants in combination with mutations in susceptible melanoma genes has not been clarified yet.…”

Section: Mc1r Association With Melanoma Susceptible Genesmentioning

confidence: 99%

“…An estimated 5–10% of all melanomas are hereditary, and of those, up to 40% are explained by germline mutations in cyclin-dependent kinase inhibitor 2a ( CDKN2A ). CDKN2A is the major susceptible gene in multiple primary melanoma patients [ 146 , 169 ]; it acts as a tumor suppressor gene, negatively regulating G1-S cell-cycle progression and promoting cellular senescence. Recently, a role for CDKN2A as a negative regulator of cellular oxidative stress has been suggested [ 170 ].…”

Section: Mc1r Association With Melanoma Susceptible Genesmentioning

confidence: 99%

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Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention

Manganelli

Guida

Ferretta

et al. 2021

Genes

Self Cite

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Melanoma and non-melanoma skin cancers (NMSCs) are the most frequent cancers of the skin in white populations. An increased risk in the development of skin cancers has been associated with the combination of several environmental factors (i.e., ultraviolet exposure) and genetic background, including melanocortin-1 receptor (MC1R) status. In the last few years, advances in the diagnosis of skin cancers provided a great impact on clinical practice. Despite these advances, NMSCs are still the most common malignancy in humans and melanoma still shows a rising incidence and a poor prognosis when diagnosed at an advanced stage. Efforts are required to underlie the genetic and clinical heterogeneity of melanoma and NMSCs, leading to an optimization of the management of affected patients. The clinical implications of the impact of germline MC1R variants in melanoma and NMSCs’ risk, together with the additional risk conferred by somatic mutations in other peculiar genes, as well as the role of MC1R screening in skin cancers’ prevention will be addressed in the current review.

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The Genetic Germline Background of Single and Multiple Primary Melanomas

Cited by 6 publications

References 41 publications

Identification of significant genes with a poor prognosis in skin cutaneous malignant melanoma based on a bioinformatics analysis

Identification of significant genes with a poor prognosis in skin cutaneous malignant melanoma based on a bioinformatics analysis

Geographical Relationships between Long-Tailed Goral (Naemorhedus caudatus) Populations Based on Gut Microbiome Analysis

Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention

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