Melanoma genetics/genomics.

摘要: Gene mutations represent a major driving force in the onset and progression of melanoma. Consequently many genes are being investigated for their role melanomagenesis, including not only inherited but also genetic defects that acquired due to environmental factors, such as excessive sun exposure. The field melanoma genetics thus encompasses familial through non-inherited increase risk Melanoma genomics on other hand is study genomes cells cell types progression. A “genome” includes all cell, any factors involved programing its function. The present volume aims provide reader with snapshot current genomic investigations melanoma, special emphasis targeted treatments, personalized medicine. collection Opinion, Review, Primary Research, Hypothesis Theory, Methods articles has been assembled describes panoply genes, therapeutic targets, biomarkers, pathways, pathogenic mechanisms metastasis, clinical outcomes patient response chemotherapy, immunotherapy, treatment options. Much progress made identifying individual pathways outlined Review Article by Wangari-Talbot Chen (1). Indeed, discovery melanomas frequently contain somatically BRAF gene drive growth revolutionized options, led development treatments patients metastatic bearing mutation, reviewed Klinac et al. (2). Despite harboring like or NRAS, inhibitor very variable, Stones (3) have mutation status respect sensitivity inhibitors combination therapies panel New Zealand human lines Original Research Article. Mutations GNAQ, GNA11, BAP1 associated uveal blue nevi, first time Hawkes (4) whether these predisposition nevi. Although can be identified from earliest stages onset, presently validated use advanced stage IV melanomas. Could targeting successfully used treat earlier melanoma? This subject an Opinion Ahn Eccles (5). With plethora information, outcome data available studies, what best way manage interrogate this burgeoning information? Trevarton (6) describe web tool integrating multiple sources information called MelanomaDB Article. Then immediately following critique Reinhold (7) advantages disadvantages approach taken article integration. In addition “driver” BRAF, related promoting likely important Hippo pathway, which discussed Theory Kim (8). An (9) investigates epithelial-mesenchymal transition marker expression melanocytes lines. In similarly themed (10) suggest switching proliferative invasive phenotype during metastasis parallels developmental mechanisms, could under control. They propose switch theory, they hypothesize Article. Biomarkers expected help further stratification poor prognosis diagnosis, Dye (11) Expression one factor GLIPR1 was found correlate potential cells, demonstrated Awasthi al (12). Metastasis generally involves dissemination circulating Joshi (13), metastasize brain, Yashin (14). therapy brain vivo modeling molecular characterization Gaziel-Sovran (15). This clearly demonstrates impact had improved past decade, promise yet come, remains public health issue Western societies. especially so Australia, where recorded incidence rates highest world (41.2 per 100,000 population Zealand, age standardized Segi population, 2004, 37.2 compared to, example, 11.9 Europe. Clearly much work still needs done address high mortality