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Melanoma genetics

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https://www.readbyqxmd.com/read/28331352/skin-disorders-in-parkinson-s-disease-potential-biomarkers-and-risk-factors
#1
REVIEW
Astrid-Helene Ravn, Jacob P Thyssen, Alexander Egeberg
Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by a symptom triad comprising resting tremor, rigidity, and akinesia. In addition, non-motor symptoms of PD are well recognized and often precede the overt motor manifestations. Cutaneous manifestations as markers of PD have long been discussed, and cumulative evidence shows an increased prevalence of certain dermatological disorders in PD. Seborrheic dermatitis is considered to occur as a premotor feature of PD referable to dysregulation of the autonomic nervous system...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/28327825/genotype-association-gstm1-null-and-gastric-cancer-evidence-based-meta-analysis
#2
Rívian Xavier Ribeiro, Cícera Isabella Leão Leite Nascimento, Antonio Márcio Teodoro Cordeiro Silva
BACKGROUND: Gastric cancer is the fourth most common cancer in men and the sixth among women, except for non-melanoma skin tumors, in Brazil. Epidemiological evidences reveal the multifactorial etiology of this cancer, highlighting risk factors such as: infection by the bacterium Helicobacter pylori, advanced age, smoking, chronic alcohol abuse, eating habits and genetic polymorphisms. Considering the context of genetic polymorphisms, there is the absence of the GSTM1 gene. The lack of GSTM1 function to detoxify xenobiotics and promote defense against oxidative stress leads to increased DNA damage, promoting gastric carcinogenesis...
March 16, 2017: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/28326470/targeted-treatment-of-brain-metastases
#3
REVIEW
Nicole Shonka, Vyshak Alva Venur, Manmeet S Ahluwalia
PURPOSE OF REVIEW: Brain metastases are the most common intracranial tumors in adults. Historically, the median survival after the diagnosis of brain metastases has been dismal and medical therapies had a limited role in the management of these patients. RECENT FINDINGS: The advent of targeted therapy has ushered in an era of increased hope for patients with brain metastases. The most common malignancies that result in brain metastases-melanoma, lung cancer, and breast cancer, often have actionable mutations, which make them good candidates for targeted systemic therapy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28325214/antibody-based-cancer-therapy-successful-agents-and-novel-approaches
#4
D Hendriks, G Choi, M de Bruyn, V R Wiersma, E Bremer
Since their discovery, antibodies have been viewed as ideal candidates or "magic bullets" for use in targeted therapy in the fields of cancer, autoimmunity, and chronic inflammatory disorders. A wave of antibody-dedicated research followed, which resulted in the clinical approval of a first generation of monoclonal antibodies for cancer therapy such as rituximab (1997) and cetuximab (2004), and infliximab (2002) for the treatment of autoimmune diseases. More recently, the development of antibodies that prevent checkpoint-mediated inhibition of T cell responses invigorated the field of cancer immunotherapy...
2017: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/28325191/genetics-of-gastric-cancer
#5
REVIEW
Matthew S Strand, Albert Craig Lockhart, Ryan C Fields
Gastric cancer represents a major cause of cancer mortality worldwide despite a declining incidence. New molecular classification schemes developed from genomic and molecular analyses of gastric cancer have provided a framework for understanding this heterogenous disease, and early findings suggest these classifications will be relevant for designing and implementing new targeted therapies. The success of targeted therapy and immunotherapy in breast cancer and melanoma, respectively, has not been duplicated in gastric cancer, but trastuzumab and ramucirumab have demonstrated efficacy in select populations...
April 2017: Surgical Clinics of North America
https://www.readbyqxmd.com/read/28323902/no-prognostic-value-added-by-vitamin-d-pathway-snps-to-current-prognostic-system-for-melanoma-survival
#6
Li Luo, Irene Orlow, Peter A Kanetsky, Nancy E Thomas, Shenying Fang, Jeffrey E Lee, Marianne Berwick, Ji-Hyun Lee
The prognostic improvement attributed to genetic markers over current prognostic system has not been well studied for melanoma. The goal of this study is to evaluate the added prognostic value of Vitamin D Pathway (VitD) SNPs to currently known clinical and demographic factors such as age, sex, Breslow thickness, mitosis and ulceration (CDF). We utilized two large independent well-characterized melanoma studies: the Genes, Environment, and Melanoma (GEM) and MD Anderson studies, and performed variable selection of VitD pathway SNPs and CDF using Random Survival Forest (RSF) method in addition to Cox proportional hazards models...
2017: PloS One
https://www.readbyqxmd.com/read/28321632/metastatic-melanoma-moves-on-translational-science-in-the-era-of-personalized-medicine
#7
Mitchell P Levesque, Phil F Cheng, Marieke I G Raaijmakers, Annalisa Saltari, Reinhard Dummer
Progress in understanding and treating metastatic melanoma is the result of decades of basic and translational research as well as the development of better in vitro tools for modeling the disease. Here, we review the latest therapeutic options for metastatic melanoma and the known genetic and non-genetic mechanisms of resistance to these therapies, as well as the in vitro toolbox that has provided the greatest insights into melanoma progression. These include next-generation sequencing technologies and more complex 2D and 3D cell culture models to functionally test the data generated by genomics approaches...
March 20, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28317522/skin-cancer-risk-nonmelanoma-skin-cancers-melanoma-in-vitiligo-patients
#8
REVIEW
Michelle Rodrigues
The relative genetic and immune protection against melanoma and nonmelanoma skin cancers in those with vitiligo is reassuring. The results of recent studies allow us to be cautiously optimistic when discussing the risk of skin cancer caused by therapeutic exposure to narrow-band ultraviolet B light. However, we should continue to recommend sun protection at all other times to avoid burning in vitiliginous skin and to decrease incidental ultraviolet exposure. It is also important to perform full skin checks regularly in light of the prolonged courses of phototherapy required to repigment vitiliginous skin and maintain repigmentation thereafter...
April 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28314930/non-reproducible-sequence-artifacts-in-ffpe-tissue-an-experience-report
#9
Richard Ofner, Cathrin Ritter, Selma Ugurel, Lorenzo Cerroni, Mathias Stiller, Thomas Bogenrieder, Flavio Solca, David Schrama, Jürgen C Becker
BACKGROUND: Recent advances in sequencing technologies supported the development of molecularly targeted therapy in cancer patients. Thus, genomic analyses are becoming a routine part in clinical practice and accurate detection of actionable mutations is essential to assist diagnosis and therapy choice. However, this is often challenging due to major problems associated with DNA from formalin-fixed paraffin-embedded tissue which is usually the primary source for genetic testing. OBJECTIVES: Here we want to share our experience regarding major problems associated with FFPE DNA used for PCR-based sequencing as illustrated by the mutational analysis of ERBB4 in melanoma...
March 17, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28314541/risk-of-subsequent-primary-kidney-cancer-after-another-malignancy-a-population-based-study
#10
Omar Abdel-Rahman
BACKGROUND: Population-based data on the development of kidney cancer as a second malignant neoplasm following the diagnosis of other common malignancies are rare. This clinical scenario has been evaluated within the Surveillance, Epidemiology, and End Results (SEER) database. MATERIALS AND METHODS: The SEER-9 database (1973-2013) was queried using the SEER*Stat program to determine the standardized incidence ratios (SIRs) of kidney cancer development following each one of 10 common invasive malignancies (colorectal, breast, prostate, lung, thyroid, corpus uteri, urinary bladder, kidney/renal pelvis, cutaneous melanoma, and non-Hodgkin lymphoma)...
February 27, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28314349/melanoma-development-molecular-biology-genetics-and-clinical-application
#11
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28302645/pd-l1-on-tumor-cells-is-sufficient-for-immune-evasion-in-immunogenic-tumors-and-inhibits-cd8-t-cell-cytotoxicity
#12
Vikram R Juneja, Kathleen A McGuire, Robert T Manguso, Martin W LaFleur, Natalie Collins, W Nicholas Haining, Gordon J Freeman, Arlene H Sharpe
It is unclear whether PD-L1 on tumor cells is sufficient for tumor immune evasion or simply correlates with an inflamed tumor microenvironment. We used three mouse tumor models sensitive to PD-1 blockade to evaluate the significance of PD-L1 on tumor versus nontumor cells. PD-L1 on nontumor cells is critical for inhibiting antitumor immunity in B16 melanoma and a genetically engineered melanoma. In contrast, PD-L1 on MC38 colorectal adenocarcinoma cells is sufficient to suppress antitumor immunity, as deletion of PD-L1 on highly immunogenic MC38 tumor cells allows effective antitumor immunity...
March 16, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28299306/expression-of-estrogen-receptor-alpha-in-malignant-melanoma
#13
Parvin Rajabi, Marzieh Bagheri, Mohsen Hani
BACKGROUND: Features of malignant melanoma (MM) vary in the different geographic regions of the world. This may be attributable to environmental, ethnic, and genetic factors. The aim of this study was to determine the expression of estrogen receptor alpha (ER-α) in MM in Isfahan, Iran. MATERIALS AND METHODS: This study was planned as a descriptive, analytical, cross-sectional investigation. During this study, paraffin-embedded tissue blocks of patients with a histopathologic diagnosis of MM was studied for ER-α using immunohistochemistry (IHC)...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#14
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 10, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28275910/mechanisms-of-drug-resistance-in-melanoma
#15
Matthew Winder, Amaya Virós
Metastatic melanoma is associated with poor outcome and is largely refractory to the historic standard of care. In recent years, the development of targeted small-molecule inhibitors and immunotherapy has revolutionised the care and improved the overall survival of these patients. Therapies targeting BRAF and MEK to block the mitogen-activated protein kinase (MAPK) pathway were the first to show unprecedented clinical responses. Following these encouraging results, antibodies targeting immune checkpoint inhibition molecules cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4), programmed cell death (PD)-1, and PD-ligand1(PD-L1) demonstrated sustained tumour regression in a significant subset of patients by enabling an anti-tumour immunologic response...
March 9, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28274953/incidence-of-malignant-tumours-in-patients-with-a-non-functioning-pituitary-adenoma
#16
Daniel S Olsson, Casper Hammarstrand, Ing-Liss Bryngelsson, Anna G Nilsson, Eva Andersson, Gudmundur Johannsson, Oskar Ragnarsson
Whether patients with non-functioning pituitary adenoma (NFPA) are at increased risk of developing malignant tumours has been sparsely studied and is a matter of debate. In this study, we have investigated the incidence of malignant tumours in a large and unselected group of patients with NFPA. The study was nationwide and included all patients diagnosed with NFPA between 1987-2011 (n=2,795) in Sweden, identified in the National Patient Register. Malignant tumours, occurring after the NFPA diagnosis, were identified in the Swedish Cancer Register between 1987-2014...
March 8, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28266728/genetic-3-utr-variation-is-associated-with-human-pigmentation-characteristics-and-sensitivity-to-sunlight
#17
Barbara Hernando, Maria Peña-Chilet, Maider Ibarrola-Villava, Manuel Martin-Gonzalez, Cristina Gomez-Fernandez, Gloria Ribas, Conrado Martinez-Cadenas
Sunlight exposure induces signalling pathways leading to the activation of melanin synthesis and tanning response. MicroRNAs (miRNAs) can regulate the expression of genes involved in pigmentation pathways by binding to the complementary sequence in their 3'-untrastaled regions (3'UTRs). Therefore, 3'UTR SNPs are predicted to modify the ability of miRNAs to target genes, resulting in differential gene expression. In this study, we investigated the role in pigmentation and sun-sensitivity traits, as well as in melanoma susceptibility, of 38 different 3'UTR SNPs from 38 pigmentation-related genes...
March 7, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28263969/activated-mek-cooperates-with-cdkn2a-and-pten-loss-to-promote-the-development-and-maintenance-of-melanoma
#18
H Yang, D A Kircher, K H Kim, A H Grossmann, M W VanBrocklin, S L Holmen, J P Robinson
The development of targeted inhibitors, vemurafenib and dabrafenib, has led to improved clinical outcome for melanoma patients with BRAF(V600E) mutations. Although the initial response to these inhibitors can be dramatic, sometimes causing complete tumor regression, the majority of melanomas eventually become resistant. Mitogen-activated protein kinase kinase (MEK) mutations are found in primary melanomas and frequently reported in BRAF melanomas that develop resistance to targeted therapy; however, melanoma is a molecularly heterogeneous cancer, and which mutations are drivers and which are passengers remains to be determined...
March 6, 2017: Oncogene
https://www.readbyqxmd.com/read/28263021/the-importance-of-treating-the-field-in-actinic-keratosis
#19
REVIEW
E Stockfleth
Actinic keratoses (AKs) are intraepithelial atypical proliferations of keratinocytes that develop in skin that has undergone long-term exposure to ultraviolet radiation. Given the ageing population and an increasing prevalence of AK, the socio-economic burden of AK is likely to rise over the coming years. Areas of subclinical (non-visible) sun damage in the periphery of visible AK lesions contain the same genetic changes as those found in the lesions themselves, and are known as areas of field cancerization...
March 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28251966/-scanning-for-kras-nras-braf-and-pik3ca-mutations-by-dna-melting-analysis-with-taqman-probes
#20
I V Botezatu, I O Panchuk, A M Stroganova, A I Senderovich, V N Kondratova, V P Shelepov, A V Lichtenstein
Scanning for mutations by DNA melting analysis (DMA) is based on asymmetric PCR followed by the melting of duplexes formed by single-stranded amplicons with TaqMan probes. The method is optimally suited for clinical genetic testing; it is easy to perform, high-throughput, and sensitive. The detection limit of mutant alleles by the DMA method is about 3%, which is much higher than the sensitivity of Sanger sequencing. In addition, the DMA method is realized in a closed-tube format, while 2-h assay is carried out in a single tube without any intermediate or additional procedures thereby minimizing the risk of cross contamination of the samples...
January 2017: Molekuliarnaia Biologiia
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