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https://www.readbyqxmd.com/read/28634549/a-qualitative-study-of-quality-of-life-concerns-following-a-melanoma-diagnosis
#1
Rachel I Vogel, Lori G Strayer, Rehana L Ahmed, Anne Blaes, DeAnn Lazovich
The goal of this study was to identify a relevant and inclusive list of quality of life issues among long-term survivors of melanoma. Individuals diagnosed with stage I-III cutaneous melanoma and had survived 1-5 years, ages 18-65 years at diagnosis, were recruited. Five focus groups were conducted with 33 participants in total. Discussions centered on participants' experiences at diagnosis, as well as ongoing physical, emotional, and social concerns, and behavioral changes since diagnosis. The majority of participants reported shock, fear, and feeling overwhelmed at the time of diagnosis...
2017: Journal of Skin Cancer
https://www.readbyqxmd.com/read/28631824/incidence-of-melanoma-and-keratinocytic-carcinomas-in-patients-evaluated-by-store-and-forward-teledermatology-vs-dermatology-clinic
#2
Malcolm Creighton-Smith, Robert D Murgia, Nellie Konnikov, Adriana Dornelles, Caren Garber, Bichchau T Nguyen
BACKGROUND: It is unclear whether incidence of detected skin cancer in patients evaluated by store-and-forward teledermatology (SAF) vs. face-to-face consultation (F2F) significantly differs, and whether such differences are because of variations in patient demographics, diagnostic accuracy, or both. METHODS: This retrospective cohort study compares patient skin cancer risk profile, pre-post biopsy diagnostic accuracy, and detection rates of any skin cancer, melanoma, and keratinocytic carcinoma between all SAF teledermatology patients and a subset of randomly selected F2F consultations at VA-Boston Healthcare System in 2014...
June 20, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28630682/overexpressed-prame-is-a-potential-immunotherapy-target-in-sarcoma-subtypes
#3
Jason Roszik, Wei-Lien Wang, John A Livingston, Christina L Roland, Vinod Ravi, Cassian Yee, Patrick Hwu, Andrew Futreal, Alexander J Lazar, Shreyaskumar R Patel, Anthony P Conley
BACKGROUND: PRAME (preferentially expressed antigen in melanoma), a member of the cancer-testis antigen family, has been shown to have increased expression in solid tumors, including sarcoma, and PRAME-specific therapies are currently in development for other cancers such as melanoma. METHODS: To map the landscape of PRAME expression in sarcoma, we used publicly available data from The Cancer Genome Atlas (TCGA) and the Cancer Cell Line Encyclopedia (CCLE) projects and determined which sarcoma subtypes and subsets are associated with increased PRAME expression...
2017: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/28627002/does-personalised-melanoma-genomic-risk-information-trigger-conversations-about-skin-cancer-prevention-and-skin-examination-with-family-friends-and-health-professionals
#4
A K Smit, L A Keogh, A J Newson, P N Butow, K Dunlop, R L Morton, J Kirk, D Espinoza, A E Cust
BACKGROUND: Receiving information about melanoma genomic risk might trigger conversations about skin cancer prevention and skin examinations. OBJECTIVES: To explore conversations prompted by receiving personalised genomic risk of melanoma with family, friends and health professionals. METHODS: We used a mixed-methods approach. Participants without a personal history and unselected for a family history of melanoma (n=103, aged 21-69, 53% women) completed questionnaires 3-months after receiving a personalised melanoma genomic risk assessment...
June 19, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28626406/late-onset-inflammatory-bowel-disease-like-syndrome-after-ipilimumab-therapy-a-case-report
#5
Reem Akel, Bilal Anouti, Arafat Tfayli
BACKGROUND: Antitumor immunotherapy has become a major player in cancer therapy. Ipilimumab is a humanized monoclonal antibody against the cytotoxic T lymphocyte-associated antigen 4 (CTLA-4), an important downregulator of T-cell activation. Ipilimumab has demonstrated tumor regression and improvement in overall survival in patients with metastatic melanoma. Unfortunately, immune activation induced by this drug has been associated with several immune-mediated adverse effects, namely diarrhea and colitis...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28626083/cellular-and-disease-functions-of-the-prader-willi-syndrome-gene-magel2
#6
REVIEW
Klementina Fon Tacer, Patrick Ryan Potts
Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein complex consisting of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme...
June 16, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28623311/identification-of-rare-genetic-variation-of-nlrp1-gene-in-familial-multiple-sclerosis
#7
Ales Maver, Polona Lavtar, Smiljana Ristić, Sanja Stopinšek, Saša Simčič, Keli Hočevar, Juraj Sepčić, Jelena Drulović, Tatjana Pekmezović, Ivana Novaković, Hodžić Alenka, Gorazd Rudolf, Saša Šega, Nada Starčević-Čizmarević, Anja Palandačić, Gordana Zamolo, Miljenko Kapović, Tina Likar, Borut Peterlin
The genetic etiology and the contribution of rare genetic variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms of MS have been described, no convincing rare and penetrant variants have been reported to date. We aimed to characterize the contribution of rare genetic variation in familial and sporadic MS and have identified a family with two sibs affected by concomitant MS and malignant melanoma (MM). We performed whole exome sequencing in this primary family and 38 multiplex MS families and 44 sporadic MS cases and performed transcriptional and immunologic assessment of the identified variants...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28621264/dna-methylation-hydroxymethylation-in-melanoma
#8
REVIEW
Siqi Fu, Haijing Wu, Huiming Zhang, Christine G Lian, Qianjin Lu
Melanoma is a malignant tumor of melanocytes and is considered to be the most aggressive cancer among all skin diseases. The pathogenesis of melanoma has not been well documented, which may restrict the research and development of biomarkers and therapies. To date, several genetic and epigenetic factors have been identified as contributing to the development and progression of melanoma. Besides the findings on genetic susceptibilities, the recent progress in epigenetic studies has revealed that loss of the DNA hydroxymethylation mark, 5-hydroxymethylcytosine (5-hmC), along with high levels of DNA methylation at promoter regions of several tumor suppressor genes in melanoma, may serve as biomarkers for melanoma...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#9
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28607006/nr4a2-promotes-dna-double-strand-break-repair-upon-exposure-to-uvr
#10
Kelvin Yin, Yash Chhabra, Romain Tropée, Yi Chieh Lim, Mitchell Fane, Eloise Dray, Richard Sturm, Aaron G Smith
Exposure of melanocytes to ultraviolet radiation (UVR) induces the formation of UV-lesions that can produce deleterious effects in genomic DNA. Encounters of replication forks with unrepaired UV-lesions can lead to several complex phenomena, such as the formation of DNA double strand breaks (DSBs). The NR4A family of nuclear receptors are transcription factors that have been associated with mediating DNA repair functions downstream of the MC1R signalling pathway in melanocytes. In particular, emerging evidence shows that upon DNA damage, the NR4A2 receptor can translocate to sites of UV-lesion by mechanisms requiring post-translational modifications within the N-terminal domain and at a serine residue in the DNA biding domain at position 337...
June 12, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28599981/p90rsk-blockade-inhibits-dual-braf-and-mek-inhibitor-resistant-melanoma-by-targeting-protein-synthesis
#11
Nicholas Theodosakis, Goran Micevic, Casey G Langdon, Alessandra Ventura, Robert Means, David F Stern, Marcus W Bosenberg
Despite improvements in survival in metastatic melanoma with combined BRAF and MEK inhibitor treatment, the overwhelming majority of patients eventually acquire resistance to both agents. Consequently, new targets for therapy in resistant tumors are currently being evaluated. Previous studies have identified p90RSK family kinases as key factors for growth and proliferation, as well as protein synthesis via assembly of the m(7)-GTP cap-dependent translation complex. We sought to evaluate inhibitors of p90RSK family members: BI-D1870 and BRD7389, for their ability to inhibit both proliferation and protein synthesis in patient-derived melanoma cell lines with acquired resistance to combined treatment with the BRAF inhibitor vemurafenib and MEK inhibitor selumetinib...
June 6, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28599419/a-conditionally-replicating-adenovirus-expressing-il-24-acts-synergistically-with-temozolomide-to-enhance-apoptosis-in-melanoma-cells-in-vitro
#12
Zhen Liang, Chun-Sheng Yang, Feng Gu, Lan-Sheng Zhang
Malignant melanoma is characterized by suppressed apoptosis in tumor cells and high levels of invasion. Temozolomide (TMZ) is one of the most effective single chemotherapeutic agents for patients with malignant melanoma, but resistance develops quickly and frequently. Therapeutic cytokines such as interleukin-24 (IL-24) and conditionally replicating adenoviruses have exhibited promising results as complementary therapies. Thus, the present study hypothesized that a conditionally replicating adenovirus expressing IL-24 combined with TMZ may exhibit increased antitumor activity compared with either treatment alone in melanoma A375 and M14 cell lines in vitro...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28598867/pathophysiology-of-antenatal-bartter-s-syndrome
#13
Martin Kömhoff, Kamel Laghmani
PURPOSE OF REVIEW: Antenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of Henle. Novel insights into the pathophysiology, as well as the recent identification of a novel genetic cause of aBS, merit an update on this topic. RECENT FINDINGS: In aBS, severe salt losing is further aggravated by defective salt sensing in the macula densa, where a reduced tubular salt concentration is perceived and glomerular filtration is increased instead of decreased...
June 8, 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28595551/nmr-based-drug-development-and-improvement-against-malignant-melanoma-implications-for-the-mia-protein-family
#14
Oliver Arnolds, Xueyin Zhong, King Tuo Yip, Miriam Schöpel, Bastian Kohl, Stefanie Pütz, Raid Abdel-Jalil, Raphael Stoll
The Melanoma Inhibitory Activity (MIA) protein is strongly expressed and secreted by malignant melanoma cells and was shown to promote melanoma development and invasion. The MIA protein was the first extracellular protein shown to adopt a Src homology 3 (SH3) domain-like fold in solution that can bind to fibronectin type III domains. Together with MIA, the homologous proteins OTOR (or FDP), MIA-2, and TANGO (or MIA-3) constitute a protein family of non-cytoplasmic and - except for full-length TANGO and TANGO1-like (TALI) - extracellular SH3-domain containing proteins...
June 8, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28592523/germline-cdkn2a-p16ink4a-mutations-contribute-to-genetic-determinism-of-sarcoma
#15
Fanélie Jouenne, Isaure Chauvot de Beauchene, Emeline Bollaert, Marie-Françoise Avril, Olivier Caron, Olivier Ingster, Axel Lecesne, Patrick Benusiglio, Philippe Terrier, Vincent Caumette, Daniel Pissaloux, Arnaud de la Fouchardière, Odile Cabaret, Birama N'Diaye, Amélie Velghe, Gaelle Bougeard, Graham J Mann, Serge Koscielny, Jennifer H Barrett, Mark Harland, Julia Newton-Bishop, Nelleke Gruis, Remco Van Doorn, Marion Gauthier-Villars, Gaelle Pierron, Dominique Stoppa-Lyonnet, Isabelle Coupier, Rosine Guimbaud, Capucine Delnatte, Jean-Yves Scoazec, Alexander M Eggermont, Jean Feunteun, Luba Tchertanov, Jean-Baptiste Demoulin, Thierry Frebourg, Brigitte Bressac-de Paillerets
BACKGROUND: Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology. METHODS AND RESULTS: We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation in CDKN2A tumour suppressor gene. We searched for individuals with sarcoma among 474 melanoma-prone families with a CDKN2A-/+ genotype and for CDKN2A mutations in 190 TP53-negative LFL families where the index case was a sarcoma...
June 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28584020/kit-d816v-induces-src-mediated-tyrosine-phosphorylation-of-mitf-and-altered-transcription-program-in-melanoma
#16
Bengt Phung, Julhash U Kazi, Alicia Lundby, Kristin Bergsteinsdottir, Jianmin Sun, Colin R Goding, Göran Jönsson, Jesper V Olsen, Eiríkur Steingrímsson, Lars Rönnstrand
The oncogenic D816V mutation of the KIT receptor is well characterized in systemic mastocytosis and acute myeloid leukemia. Although KIT(D816V) has been found in melanoma, its function and involvement in this malignancy is not understood. Here we show that KIT(D816V) induces tyrosine phosphorylation of MITF through a triple protein complex formation between KIT, MITF, and SRC family kinases. In turn, phosphorylated MITF activates target genes that are involved in melanoma proliferation, cell-cycle progression, suppression of senescence, survival, and invasion...
June 5, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28579578/the-t-box-transcription-factor-3-in-development-and-cancer
#17
Tarryn Willmer, Aretha Cooper, Jade Peres, Rehana Omar, Sharon Prince
T-box factors comprise an archaic family of evolutionary conserved transcription factors that regulate patterns of gene expression essential for embryonic development. The T-box transcription factor 3 (TBX3), a member of this family, is expressed in several tissues and plays critical roles in, among other structures, the heart, mammary gland and limbs and haploinsufficiency of the human TBX3 gene is the genetic basis for the autosomal dominant disorder, ulnar-mammary syndrome. Overexpression of TBX3 on the other hand has been linked to several cancers including melanoma, breast, pancreatic, liver, lung, head and neck, ovarian, bladder carcinomas and a number of sarcoma subtypes...
June 4, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28578276/decoding-nadph-oxidase-4-expression-in-human-tumors
#18
Jennifer L Meitzler, Hala R Makhlouf, Smitha Antony, Yongzhong Wu, Donna Butcher, Guojian Jiang, Agnes Juhasz, Jiamo Lu, Iris Dahan, Pidder Jansen-Dürr, Haymo Pircher, Ajay M Shah, Krishnendu Roy, James H Doroshow
NADPH oxidase 4 (NOX4) is a redox active, membrane-associated protein that contributes to genomic instability, redox signaling, and radiation sensitivity in human cancers based on its capacity to generate H2O2 constitutively. Most studies of NOX4 in malignancy have focused on the evaluation of a small number of tumor cell lines and not on human tumor specimens themselves; furthermore, these studies have often employed immunological tools that have not been well characterized. To determine the prevalence of NOX4 expression across a broad range of solid tumors, we developed a novel monoclonal antibody that recognizes a specific extracellular region of the human NOX4 protein, and that does not cross-react with any of the other six members of the NOX gene family...
May 26, 2017: Redox Biology
https://www.readbyqxmd.com/read/28574815/prpf-overexpression-induces-drug-resistance-through-actin-cytoskeleton-rearrangement-and-epithelial-mesenchymal-transition
#19
Salman Ul Islam, Adeeb Shehzad, Jong Kyung Sonn, Young Sup Lee
Pre-mRNA processing factor (PRPF) 4B kinase belongs to the CDK-like kinase family, and is involved in pre-mRNA splicing, and in signal transduction. In this study, we observed that PRPF overexpression decreased the intracellular levels of reactive oxygen species, and inhibited resveratrol-induced apoptosis by activating the cell survival signaling proteins NFκB, ERK, and c-MYC in HCT116 human colon cancer cells. PRPF overexpression altered cellular morphology, and rearranged the actin cytoskeleton, by regulating the activity of Rho family proteins...
May 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28561672/pancreatic-adenocarcinoma-improving-prevention-and-survivorship
#20
Davendra P S Sohal, Field F Willingham, Massimo Falconi, Kara L Raphael, Stefano Crippa
Pancreatic cancer is a growing problem in oncology, given slowly rising incidence and continued suboptimal outcomes. A concerted effort to reverse this tide will require prevention, early diagnosis, and improved systemic therapy for curable disease. We focus on these aspects in detail in this study. Hereditary pancreatic cancer is an underappreciated area. With the growing use of genomics (both somatic and germline) in cancer care, there is increasing recognition of hereditary pancreatic cancer cases: around 10% of all pancreatic cancer may be related to familial syndromes, such as familial atypical multiple mole and melanoma (FAMMM) syndrome, hereditary breast and ovarian cancer, Lynch syndrome, and Peutz-Jeghers syndrome...
2017: American Society of Clinical Oncology Educational Book
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