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Melanoma genetics

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https://www.readbyqxmd.com/read/28526240/endocrine-actions-of-vitamin-d-in-skin-relevance-for-photocarcinogenesis-of-non-melanoma-skin-cancer-and-beyond
#1
REVIEW
Jörg Reichrath, Roman Saternus, Thomas Vogt
The skin represents a pivotal organ for the human body's vitamin D endocrine system, being both the site of ultraviolet (UV)-B-induced vitamin D synthesis and a target tissue for the pluripotent effects of 1,25(OH)2D3 and other biologically active vitamin D metabolites. As many other steroid hormones, 1,25(OH)2D3 exerts its effects via two independent signal transduction pathways: the classical genomic and the non-genomic pathway. While non-genomic effects of 1,25(OH)2D3 are in part exerted via effects on intracellular calcium, genomic effects are mediated by the vitamin D receptor (VDR)...
May 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28522871/mug-mel2-a-novel-highly-pigmented-and-well-characterized-nras-mutated-human-melanoma-cell-line
#2
Beate Rinner, Greta Gandolfi, Katharina Meditz, Marie-Therese Frisch, Karin Wagner, Alessia Ciarrocchi, Federica Torricelli, Raili Koivuniemi, Johanna Niklander, Bernadette Liegl-Atzwanger, Birgit Lohberger, Ellen Heitzer, Nassim Ghaffari-Tabrizi-Wizsy, Dagmar Zweytick, Iris Zalaudek
NRAS mutation in melanoma has been associated with aggressive tumor biology and poor prognosis. Although targeted therapy has been tested for NRAS mutated melanoma, response rates still appear much weaker, than in BRAF mutated melanoma. While plenty of cell lines exist, however, only few melanogenic cell lines retain their in vivo characteristics. In this work we present an intensively pigmented and well-characterized cell line derived from a highly aggressive NRAS mutated cutaneous melanoma, named MUG-Mel2...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28512236/focus-on-cutaneous-and-uveal-melanoma-specificities
#3
REVIEW
Charlotte Pandiani, Guillaume E Béranger, Justine Leclerc, Robert Ballotti, Corine Bertolotto
Cutaneous melanoma (CM) and uveal melanoma (UM) derive from cutaneous and uveal melanocytes that share the same embryonic origin and display the same cellular function. However, the etiopathogenesis and biological behaviors of these melanomas are very different. CM and UM display distinct landscapes of genetic alterations and show different metastatic routes and tropisms. Hence, therapeutic improvements achieved in the last few years for the treatment of CM have failed to ameliorate the clinical outcomes of patients with UM...
April 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28510328/genetic-variants-in-the-genes-encoding-rho-gtpases-and-related-regulators-predict-cutaneous-melanoma-specific-survival
#4
Shun Liu, Yanru Wang, William Xue, Hongliang Liu, Yinghui Xu, Qiong Shi, Wenting Wu, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Terry Hyslop, Yi Li, Jiali Han, Qingyi Wei
Rho GTPases control cell division, motility, adhesion, vesicular trafficking and phagocytosis, which may affect progression and/or prognosis of cancers. Here, we investigated associations between genetic variants of Rho GTPases-related genes and cutaneous melanoma-specific survival (CMSS) by re-analyzing a published melanoma genome-wide association study (GWAS) and validating the results in another melanoma GWAS. In the single-locus analysis of 36,018 SNPs in 129 Rho-related genes, 427 SNPs were significantly associated with CMSS (P<0...
May 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28502800/microrna-211-regulates-oxidative-phosphorylation-and-energy-metabolism-in-human-vitiligo
#5
Anupama Sahoo, Bongyong Lee, Katia Boniface, Julien Seneschal, Sanjaya K Sahoo, Tatsuya Seki, Chunyan Wang, Soumen Das, Xianlin Han, Michael Steppie, Sudipta Seal, Alain Taieb, Ranjan J Perera
Vitiligo is a common, chronic skin disorder characterized by loss of epidermal melanocytes and progressive depigmentation. Vitiligo has complex immune, genetic, environmental, and biochemical etiology, but the exact molecular mechanisms of vitiligo development and progression, particularly those related to metabolic control, are poorly understood. Here we characterized the human vitiligo cell line PIG3V and the normal human melanocytes, HEM-l by RNA-sequencing (RNA-seq), targeted metabolomics, and shotgun lipidomics...
May 11, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28499756/genetic-variants-in-wnt2b-and-btrc-predict-melanoma-survival
#6
Qiong Shi, Hongliang Liu, Peng Han, Chunying Li, Yanru Wang, Wenting Wu, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Jiali Han, Qingyi Wei
Cutaneous melanoma (CM) is the most lethal skin cancer. The Wnt pathway has an impact on development, invasion and metastasis of CM, thus likely affecting CM prognosis. Using data from a published genome-wide association study (GWAS) from The University of Texas M.D. Anderson Cancer Center, we assessed the associations of 19,830 common single-nucleotide polymorphisms (SNPs) in 151 Wnt pathway autosomal genes with CM-specific survival (CMSS) and then validated significant SNPs in another GWAS from Harvard University...
May 9, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28496337/immunogenicity-of-oncolytic-vaccinia-viruses-jx-gfp-and-tg6002-in-a-human-melanoma-in-vitro-model-studying-immunogenic-cell-death-dendritic-cell-maturation-and-interaction-with-cytotoxic-t-lymphocytes
#7
B Heinrich, J Klein, M Delic, K Goepfert, V Engel, L Geberzahn, M Lusky, P Erbs, X Preville, M Moehler
Oncolytic virotherapy is an emerging immunotherapeutic modality for cancer treatment. Oncolytic viruses with genetic modifications can further enhance the oncolytic effects on tumor cells and stimulate antitumor immunity. The oncolytic vaccinia viruses JX-594-GFP+/hGM-CSF (JX-GFP) and TG6002 are genetically modified by secreting granulocyte-macrophage colony-stimulating factor (GM-CSF) or transforming 5-fluorocytosine (5-FC) into 5-fluorouracil (5-FU). We compared their properties to kill tumor cells and induce an immunogenic type of cell death in a human melanoma cell model using SK29-MEL melanoma cells...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28489822/traf2-and-otud7b-govern-a-ubiquitin-dependent-switch-that-regulates-mtorc2-signalling
#8
Bin Wang, Zuliang Jie, Donghyun Joo, Alban Ordureau, Pengda Liu, Wenjian Gan, Jianping Guo, Jinfang Zhang, Brian J North, Xiangpeng Dai, Xuhong Cheng, Xiuwu Bian, Lingqiang Zhang, J Wade Harper, Shao-Cong Sun, Wenyi Wei
The mechanistic target of rapamycin (mTOR) has a key role in the integration of various physiological stimuli to regulate several cell growth and metabolic pathways. mTOR primarily functions as a catalytic subunit in two structurally related but functionally distinct multi-component kinase complexes, mTOR complex 1 (mTORC1) and mTORC2 (refs 1, 2). Dysregulation of mTOR signalling is associated with a variety of human diseases, including metabolic disorders and cancer. Thus, both mTORC1 and mTORC2 kinase activity is tightly controlled in cells...
May 10, 2017: Nature
https://www.readbyqxmd.com/read/28487463/male-breast-cancer-as-a-second-primary-cancer-increased-risk-following-lymphoma
#9
Deborah E Farr, Alexandra Thomas, Seema Ahsan Khan, Mary C Schroeder
BACKGROUND: Male breast cancer (MBC) as a second primary cancer (SPC) has a known association with prior MBC. However, its association with non-breast index malignancies, relative to population risk, has not been previously reported. MATERIALS AND METHODS: Using Surveillance, Epidemiology, and End Results program (9 catchment area) data, we identified MBCs diagnosed from 1973-2012 as their SPC. Information regarding the index malignancy was also obtained. Standardized incidence ratios (SIR) of MBC as SPC were estimated, along with incidence rates and trends...
May 9, 2017: Oncologist
https://www.readbyqxmd.com/read/28485764/%C3%A3-kad-kunskap-om-familj%C3%A3-rt-melanom-och-de-bakom%C3%A2-liggande-generna
#10
Hildur Helgadottir, Kari Nielsen, Veronica Höiom
Increased knowledge on familial melanoma and the underlying genetics Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carriers. In up to 80% of melanoma families no high risk melanoma associated germline mutations are found...
May 9, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28485554/identification-of-aca-28-a-1-acetoxychavicol-acetate-analogue-compound-as-a-novel-modulator-of-erk-mapk-signaling-which-preferentially-kills-human-melanoma-cells
#11
Ryosuke Satoh, Kanako Hagihara, Kazuki Matsuura, Yoshiaki Manse, Ayako Kita, Tatsuki Kunoh, Takashi Masuko, Mariko Moriyama, Hiroyuki Moriyama, Genzoh Tanabe, Osamu Muraoka, Reiko Sugiura
The extracellular signal-regulated kinase (ERK) signaling pathway is essential for cell proliferation and is frequently deregulated in human tumors such as melanoma. Melanoma remains incurable despite the use of conventional chemotherapy; consequently, development of new therapeutic agents for melanoma is highly desirable. Here, we carried out a chemical genetic screen using a fission yeast phenotypic assay and showed that ACA-28, a synthetic derivative of 1'-acetoxychavicol acetate (ACA), which is a natural ginger compound, effectively inhibited the growth of melanoma cancer cells wherein ERK MAPK signaling is hyperactivated due to mutations in the upstream activating regulators...
May 9, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28484715/plasma-circulating-tumor-dna-levels-for-the-monitoring-of-melanoma-patients-landscape-of-available-technologies-and-clinical-applications
#12
REVIEW
Benoit Busser, Julien Lupo, Lucie Sancey, Stéphane Mouret, Patrice Faure, Joel Plumas, Laurence Chaperot, Marie Thérèse Leccia, Jean Luc Coll, Amandine Hurbin, Pierre Hainaut, Julie Charles
Melanoma is a cutaneous cancer with an increasing worldwide prevalence and high mortality due to unresectable or metastatic stages. Mutations in BRAF, NRAS, or KIT are present in more than 60% of melanoma cases, but a useful blood-based biomarker for the clinical monitoring of melanoma patients is still lacking. Thus, the analysis of circulating tumor cells (CTCs) and/or cell-free circulating tumor DNA (ctDNA) analysis from blood (liquid biopsies) appears to be a promising noninvasive, repeatable, and systemic sampling tool for detecting and monitoring melanoma...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28483457/in-vitro-and-in-vivo-pharmacology-of-nxt629-a-novel-and-selective-ppar%C3%AE-antagonist
#13
Karin J Stebbins, Alex R Broadhead, Geraldine Cabrera, Lucia D Correa, Davorka Messmer, Richard Bundey, Christopher Baccei, Yalda Bravo, Austin Chen, Nicholas S Stock, Peppi Prasit, Daniel S Lorrain
Peroxisome-proliferator activated receptors (PPAR) are members of the nuclear hormone receptor superfamily which regulate gene transcription. PPARα is a key regulator of lipid homeostasis and a negative regulator of inflammation. Under conditions of metabolic stress such as fasting or glucose deprivation, PPARα is upregulated in order to control gene expression necessary for processing alternate fuel sources (e.g. fatty acid oxidation) and thereby promote maintenance of cell viability. Clinically, PPARα expression is upregulated in diseased tissues such as melanoma, chronic lymphocytic leukemia, ovarian and prostate cancer...
May 5, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28482716/dihydromyricetin-induces-apoptosis-and-cytoprotective-autophagy-through-ros-nf-%C3%AE%C2%BAb-signaling-in-human-melanoma-cells
#14
Ding-Zhou Zhou, Hai-Ying Sun, Jing-Qi Yue, Yong Peng, Yi-Ming Chen, Zhi-Jian Zhong
Dihydromyricetin (DHM), a Rattan tea extract, has recently been shown to have anti-cancer activity in mammalian cells. In the present study, we investigated the effect of DHM on human melanoma cells. Apart from induction of apoptosis, we demonstrated that DHM induced an autophagic response. Moreover, pharmacological inhibition or genetic blockade of autophagy enhanced DHM-induced cell death and apoptosis, indicating the cytoprotective role of autophagy in DHM-treated human melanoma cells. Further study suggested that the nuclear factor kappa B (NF-κB) signaling pathway was involved in DHM-induced autophagy...
May 8, 2017: Free Radical Research
https://www.readbyqxmd.com/read/28482357/systemic-sclerosis-induced-by-interferon-alfa-treatment-of-melanoma
#15
Joana Leite Silva, Daniela Santos Faria, Filipa Teixeira, Maria Carmo Afonso, Daniela Peixoto
Systemic sclerosis is a connective tissue disease characterized by a complex pathogenesis and a multi organ involvement of unknown etiology. Genetic features and environmental factors, as the use of some drugs, influence the onset of the clinical picture. The authors describe a case of a patient who developed systemic sclerosis after treatment of melanoma with interferon alfa-2b, drug rarely implicated in the induction of this disease.
May 8, 2017: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/28482042/bap1-mutations-in-high-grade-meningioma-implications-for-patient-care
#16
Ganesh M Shankar, Sandro Santagata
We have recently shown that the BAP1 (BRCA1-associated protein-1) tumor suppressor gene is inactivated in a subset of clinically-aggressive meningiomas that display rhabdoid histomorphology. Immunohistochemistry for BAP1 protein provides a rapid and inexpensive method for screening suspected cases. Notably, some patients with BAP1-mutant meningiomas have germline BAP1 mutations and the BAP1 tumor predisposition syndrome (BAP1-TPDS). It appears that nearly all patients with germline BAP1 mutations develop malignancies by age 55, most frequently uveal melanoma, cutaneous melanoma, pleural or peritoneal malignant mesothelioma or renal cell carcinoma, although other cancers have also been associated with the BAP1-TPDS...
May 8, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28479936/presage-of-oncolytic-virotherapy-for-oral-cancer-with-herpes-simplex-virus
#17
REVIEW
Yoshiaki Yura
A virus is a pathogenic organism that causes a number of infectious diseases in humans. The oral cavity is the site at which viruses enter and are excreted from the human body. Herpes simplex virus type 1 (HSV-1) produces the primary infectious disease, gingivostomatitis, and recurrent disease, labial herpes. HSV-1 is one of the most extensively investigated viruses used for cancer therapy. In principle, HSV-1 infects epithelial cells and neuronal cells and exhibits cytotoxicity due to its cytopathic effects on these cells...
May 2017: Japanese Dental Science Review
https://www.readbyqxmd.com/read/28477020/genetic-association-between-tnf-%C3%AE-promoter-polymorphism-and-susceptibility-to-squamous-cell-carcinoma-basal-cell-carcinoma-and-melanoma-a-meta-analysis
#18
Ning Liu, Guang-Jing Liu, Juan Liu
Tumor necrosis factor-alpha (TNF-α) is a multifunctional pro-inflammatory cytokine that plays an important role in cancer development. We performed a meta-analysis to assess the relationship between single nucleotide polymorphisms in the TNF-α promoter region (rs1800629 and rs361525) and susceptibility to squamous cell carcinoma (SCC), basal cell carcinoma (BCC) and melanoma. After database retrieval, article selection, data extraction, and quality assessment, 20 articles comprising 4865 cases and 6329 controls were included in this study...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28473531/oncogenic-ras-regulates-long-non-coding-rna-orilnc1-in-human-cancer
#19
Dongmei Zhang, Gao Zhang, Xiaowen Hu, Lawrence Wu, Yi Feng, Sidan He, Youyou Zhang, Zhongyi Hu, Lu Yang, Tian Tian, Weiting Xu, Zhi Wei, Yiling Lu, Keith T Flaherty, Xiaomin Zhong, Gordon B Mills, Phyllis A Gimotty, Xiaowei Xu, Meenhard Herlyn, Lin Zhang
RAS and its downstream cascades transmit cellular signals resulting in increased transcription of genes involved in cell growth and division. Protein-coding gene targets of RAS signaling have been characterized extensively, but long non-coding RNAs (lncRNA) regulated by these processes have not. Using a custom-designed lncRNA microarray, we identified the lncRNA Orilnc1 as a genetic target of RAS that is critical for RAS oncogenicity. Orilnc1 expression was regulated by RAS-RAF-MEK-ERK signaling via the transcription factor AP1...
May 4, 2017: Cancer Research
https://www.readbyqxmd.com/read/28466543/mutation-patterns-in-genes-encoding-interferon-signaling-and-antigen-presentation-a-pan-cancer-survey-with-implications-for-the-use-of-immune-checkpoint-inhibitors
#20
Jan Budczies, Michael Bockmayr, Frederick Klauschen, Volker Endris, Stefan Fröhling, Peter Schirmacher, Carsten Denkert, Albrecht Stenzinger
Blockade of immune checkpoints has become a powerful tool in cancer medicine, which is effective across various solid cancer types and hematologic malignancies. While immunohistochemical detection of PD-L1 expression in tumor cells, immune cells, or both has been introduced as predictive biomarker in several clinical trials, shortcomings and limitations of this approach were quickly recognized. As a single biomarker is unlikely to adequately reflect the complex interplay between immune cells and cancer, various genetic determinants of therapy success, including microsatellite instability, mutational burden, and PD-L1 amplification, are being investigated...
May 2, 2017: Genes, Chromosomes & Cancer
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