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Melanoma genetics

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https://www.readbyqxmd.com/read/28930163/zebrafish-in-translational-cancer-research-insight-into-leukemia-melanoma-glioma-and-endocrine-tumor-biology
#1
REVIEW
Aurora Irene Idilli, Francesca Precazzini, Maria Caterina Mione, Viviana Anelli
Over the past 15 years, zebrafish have emerged as a powerful tool for studying human cancers. Transgenic techniques have been employed to model different types of tumors, including leukemia, melanoma, glioblastoma and endocrine tumors. These models present histopathological and molecular conservation with their human cancer counterparts and have been fundamental for understanding mechanisms of tumor initiation and progression. Moreover, xenotransplantation of human cancer cells in embryos or adult zebrafish offers the advantage of studying the behavior of human cancer cells in a live organism...
September 20, 2017: Genes
https://www.readbyqxmd.com/read/28919418/the-nampt-e2f2-sirt1-axis-promotes-proliferation-and-inhibits-p53-dependent-apoptosis-in-human-melanoma-cells
#2
Hailong Zhao, Weiwei Tang, Xiaowen Chen, Siyu Wang, Xianyan Wang, Haiyan Xu, Lijuan Li
Melanoma is the most common primary malignant neoplasm in adults, causing more deaths than any other skin cancer, necessitating the development of new target-based approaches. Current evidence suggests SIRT1, the mammalian nicotinamide adenine dinucleotide (NAD(+))-dependent protein deacetylase, and nicotinamide phosphoribosyltransferase (NAMPT), the rate-limiting NAD(+) biosynthetic enzyme, together comprise a novel systemic regulatory network to play a pivotal role in cell proliferation and apoptosis. Nevertheless, how the regulation of this cofactor interfaces with signal transduction network remains poorly understood in melanoma...
September 15, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28915716/implementation-and-utilization-of-the-molecular-tumor-board-to-guide-precision-medicine
#3
REVIEW
Shuko Harada, Rebecca Arend, Qian Dai, Jessica A Levesque, Thomas S Winokur, Rongjun Guo, Martin J Heslin, Lisle Nabell, L Burt Nabors, Nita A Limdi, Kevin A Roth, Edward E Partridge, Gene P Siegal, Eddy S Yang
BACKGROUND: With rapid advances in genomic medicine, the complexity of delivering precision medicine to oncology patients across a university health system demanded the creation of a Molecular Tumor Board (MTB) for patient selection and assessment of treatment options. The objective of this report is to analyze our progress to date and discuss the importance of the MTB in the implementation of personalized medicine. MATERIALS AND METHODS: Patients were reviewed in the MTB for appropriateness for comprehensive next generation sequencing (NGS) cancer gene set testing based on set criteria that were in place...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28903138/improvement-of-genetic-testing-for-cutaneous-melanoma-in-countries-with-low-to-moderate-incidence-the-rule-of-2-vs-the-rule-of-3
#4
Juliette Delaunay, Ludovic Martin, Brigitte Bressac-de Paillerets, Gerard Duru, Olivier Ingster, Luc Thomas
Importance: Genetic testing for melanoma-prone mutation in France, a country with low to moderate incidence of melanoma, is proposed in cases with 2 invasive cutaneous melanomas and/or related cancers in the same patient, or in first- or second-degree relatives (rule of 2). In preclinical studies, these rules led to disclosure of mutation(s) in more than 10% of these families, the threshold widely accepted to justify genetic testing for cancers. Objective: To reconsider these criteria in a general population testing of patients...
September 13, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28902406/genetic-and-epigenetic-insights-into-uveal-melanoma
#5
REVIEW
Amit Sharma, Marta M Stei, Holger Fröhlich, Frank G Holz, Karin U Loeffler, Martina C Herwig-Carl
Uveal melanoma (UM) is the most frequent primary intraocular tumor in Caucasian adults and is potentially fatal if metastases develop. While several prognostic genetic changes have been identified in UM, epigenetic influences are now getting closer attention. Recent technological advances have allowed to examine the human genome to a greater extent and have improved our understanding of several diseases including malignant tumors. In this context, there has been tremendous progress in the field of UM pathogenesis...
September 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28895944/genome-wide-in-vivo-mouse-screen-data-from-studies-to-assess-host-regulation-of-metastatic-colonisation
#6
Louise van der Weyden, Natasha A Karp, Agnieszka Swiatkowska, David J Adams, Anneliese O Speak
The process of metastasis is a multi-stage cascade with prior studies suggesting that the colonisation of the secondary site is the rate limiting step. This process involves contributions from the tumour cells and also non-tumour intrinsic factors such as the stroma and the haematopoietic system. In this study, we present data from screening 810 genetically-modified mouse lines with the experimental metastasis assay where intravenous delivery of murine metastatic melanoma B16-F10 cells was used to assess the formation of pulmonary metastasic foci...
September 12, 2017: Scientific Data
https://www.readbyqxmd.com/read/28895885/anaplastic-lymphoma-kinase-in-cutaneous-malignancies
#7
REVIEW
Severine Cao, Vinod E Nambudiri
Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase that has been implicated in the pathogenesis of a variety of neoplasms. As suggested by its name, ALK was first described as part of a translocation product in cases of anaplastic large-cell lymphoma, with other genetic and cytogenetic ALK mutations subsequently coming to attention in the development of many other hematologic and solid organ malignancies. ALK has now been shown to play a role in the pathogenesis of several cutaneous malignancies, including secondary cutaneous systemic anaplastic large-cell lymphoma (ALCL) and primary cutaneous ALCL, melanoma, spitzoid tumors, epithelioid fibrous histiocytoma, Merkel cell carcinoma, and basal cell carcinoma...
September 12, 2017: Cancers
https://www.readbyqxmd.com/read/28894827/the-genetic-landscape-of-programmed-death-ligand-1-pd-l1-alterations-in-head-and-neck-cancer
#8
Thomas E Heineman, Adam Widman, Edward C Kuan, Maie St John
OBJECTIVES: Nivolumab has recently been shown in the phase III clinical trial CheckMate-141 to have superior survival rates compared to the current standard of care chemotherapy for recurrent or metastatic platinum-resistant head and neck squamous cell carcinoma (HNSCC). Nivolumab targets the immune inhibitory receptor programmed cell death 1 (PD-1). Programmed cell death ligand 1 (PD-L1) genomics have been poorly characterized in the context of HNSCC, including expression levels of PD-L1 in individual tumors as well as related up or down-regulated genes that might function as co-targets...
June 2017: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/28887323/atg5-mediates-a-positive-feedback-loop-between-wnt-signaling-and-autophagy-in-melanoma
#9
Abibatou Ndoye, Anna Budina-Kolomets, Curtis H Kugel, Marie R Webster, Amanpreet Kaur, Reeti Behera, Vito W Rebecca, Ling Li, Patricia A Brafford, Qin Liu, Y N Vashisht Gopal, Michael A Davies, Gordon B Mills, Xiaowei Xu, Hong Wu, Meenhard Herlyn, Michael C Nicastri, Jeffrey D Winkler, Maria S Soengas, Ravi K Amaravadi, Maureen E Murphy, Ashani T Weeraratna
Autophagy mediates resistance to various anticancer agents. In melanoma, resistance to targeted therapy has been linked to expression of Wnt5A, an intrinsic inhibitor of β-catenin, which also promotes invasion. In this study, we assessed the interplay between Wnt5A and autophagy by combining expression studies in human clinical biopsies with functional analyses in cell lines and mouse models. Melanoma cells with high Wnt5A and low β-catenin displayed increased basal autophagy. Genetic blockade of autophagy revealed an unexpected feedback loop whereby knocking down the autophagy factor ATG5 in Wnt5Ahigh cells decreased Wnt5A and increased β-catenin...
September 8, 2017: Cancer Research
https://www.readbyqxmd.com/read/28886811/assessing-genetic-expression-profiles-in-melanoma-prognosis
#10
REVIEW
Aaron S Farberg, Alex M Glazer, Richard R Winkelmann, Darrell S Rigel
A 31-genetic expression profile (31-GEP) test (DecisionDx-Melanoma, Castle Biosciences Inc, Friendswood, TX, USA) was developed as a diagnostic test to assist physicians in the management of cutaneous malignant melanoma. Based on a patient's primary tumor expression levels of a panel of genes (28 discriminating genes and 3 control genes), a lesion is classified as "low risk" (class 1) or "high risk" (class 2) for metastasis. Studies evaluating the clinical utility and impact of the 31-GEP test showed it positively influenced clinical management and patient care, as clinicians incorporated the additional data to modify their clinical recommendations in a risk-appropriate manner...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28886810/assessing-genetic-expression-profiles-in-melanoma-diagnosis
#11
REVIEW
Sancy A Leachman, Stephanie Mengden Koon, Veselina B Korcheva, Kevin P White
Most melanocytic tumors can be characterized as a benign nevus or a melanoma by a trained pathologist using traditional histopathological methods. However, a minority demonstrates ambiguous features and continues to be a diagnostic challenge. Genetic expression profiling (GEP) assays have been developed in an effort to resolve this dilemma. These assays measure mRNA levels of specified genes using reverse transcription quantitative polymerase chain reaction technology. The development of GEP assays, methodology, challenges associated with GEP validation and testing, and the suitability of a currently available GEP test for clinical use are reviewed...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28886809/detection-of-genetic-aberrations-in-the-assessment-and-prognosis-of-melanoma
#12
REVIEW
Whitney A High
The assessment of melanoma by light microscopy with hematoxylin-eosin staining remains an often subjective process. However, there are additional diagnostic measures that may be of utility, such as immunohistochemical staining and genetic evaluation. Adjunctive genetic assessment to augment the diagnosis of melanoma includes comparative genomic hybridization or fluorescent in situ hybridization to assess for gains or losses in genetic material, or gene expression profiling in some form, to ascertain the expression of genes associated with malignancy...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28886808/assessing-skin-cancer-using-epidermal-genetic-information-retrieved-by-adhesive-patch-skin-surface-sampling
#13
REVIEW
Nayoung Lee, Alon Scope, Harold Rabinovitz
The detection of melanoma can be challenging. Many patients have clinically equivocal lesions in cosmetically sensitive areas or have multiple suspicious lesions. Epidermal genetic information retrieval is a noninvasive diagnostic method involving the application of adhesive tape onto the skin's surface to recover genomic material from the epidermis. This genomic material can then be used in assays to determine gene expression profiles. Studies have shown the potential of this technology to aid clinicians in differentiating between melanomas and nevi...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28884047/bsmi-rs1544410-and-foki-rs2228570-vitamin-d-receptor-polymorphisms-smoking-and-body-mass-index-as-risk-factors-of-cutaneous-malignant-melanoma-in-northeast-italy
#14
Sabina Cauci, Vincenzo Maione, Cinzia Buligan, Martina Linussio, Diego Serraino, Giuseppe Stinco
OBJECTIVE: : To investigate whether vitamin D receptor gene (VDR) BsmI-rs1544410 and FokI-rs2228570 polymorphisms, smoking duration, and body mass index (BMI) are risk factors for cutaneous melanoma, especially metastatic melanoma. METHODS: : We studied 120 cutaneous melanoma cases [68 stage I and II non-metastatic melanoma (NMetM) patients, plus 52 Stage III and IV metastatic melanoma (MetM) patients], and 120 matching healthy controls from northeast Italy. VDR polymorphisms were measured by restriction fragment length polymorphism analysis...
August 2017: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/28882690/toxicogenomic-and-bioinformatics-platforms-to-identify-key-molecular-mechanisms-of-a-curcumin-analogue-dm-1-toxicity-in-melanoma-cells
#15
Érica Aparecida de Oliveira, Diogenes Saulo de Lima, Lucas Esteves Cardozo, Garcia Ferreira de Souza, Nayane de Souza, Debora Kristina Alves-Fernandes, Fernanda Faião-Flores, José Agustín Pablo Quincoces, Silvia Berlanga de Moraes Barros, Helder I Nakaya, Gisele Monteiro, Silvya Stuchi Maria-Engler
Melanoma is a highly invasive and metastatic cancer with high mortality rates and chemoresistance. Around 50% of melanomas are driven by activating mutations in BRAF that has led to the development of potent anti-BRAF inhibitors. However resistance to anti-BRAF therapy usually develops within a few months and consequently there is a need to identify alternative therapies that will bypass BRAF inhibitor resistance. The curcumin analogue DM-1 (sodium 4-[5-(4-hydroxy-3-methoxy-phenyl)-3-oxo-penta-1,4-dienyl]-2-methoxy-phenolate) has substantial anti-tumor activity in melanoma, but its mechanism of action remains unclear...
September 4, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28881857/genetic-association-between-tnf-%C3%AE-promoter-polymorphism-and-susceptibility-to-squamous-cell-carcinoma-basal-cell-carcinoma-and-melanoma-a-meta-analysis
#16
REVIEW
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...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28880216/inhibition-of-nat10-suppresses-melanogenesis-and-melanoma-growth-by-attenuating-microphthalmia-associated-transcription-factor-mitf-expression
#17
Taek-In Oh, Yoon-Mi Lee, Beong-Ou Lim, Ji-Hong Lim
N-acetyltransferase 10 (NAT10) has been considered a target for the treatment of human diseases such as cancer and laminopathies; however, its functional role in the biology of melanocytes is questionable. Using a small molecule or small interfering RNA targeting NAT10, we examined the effect of NAT10 inhibition on melanogenesis and melanoma growth in human and mouse melanoma cells. Genetic silencing or chemical inhibition of NAT10 resulted in diminished melanin synthesis through the suppression of melanogenesis-stimulating genes such as those encoding dopachrome tautomerase (DCT) and tyrosinase in B16F10 melanoma cells...
September 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28879469/pancreatic-cancer-screening
#18
REVIEW
Koushik K Das, Dayna Early
PURPOSE OF REVIEW: This review describes the rationale for pancreatic cancer screening, outlines groups that are at elevated risk for pancreatic cancer, and summarizes the relative risk in each setting. We also review the methods available for performing pancreatic cancer screening and the recommended screening intervals. RECENT FINDINGS: Several genetic mutations have been identified that increase the risk for pancreatic cancer. Most are rare, however, and at-risk individuals are most often those with a strong family history of pancreatic cancer (with multiple family members affected) but no identifiable genetic mutation...
September 6, 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28873483/a-rare-case-of-amelanotic-anorectal-melanoma
#19
Nicole A Negbenebor, Edward Feller
We report an exceedingly rare case of amelanotic anorectal melanoma misdiagnosed as hemorrhoids. A 74-year-old man presented with a week's history of "blood on toilet tissue" without bowel complaints or history of cutaneous melanoma. Skin evaluation was normal. Rectal exam was negative for blood, but revealed an anal nodule, interpreted as a hemorrhoid. Hemoglobin was normal; bleeding persisted. After one month, colonoscopy detected a non-pigmented anal lesion. Biopsy showed melanoma. Noncutaneous mucosal melanoma represents 0...
September 1, 2017: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/28868285/systemic-braf-mek-inhibitors-as-a-potential-treatment-option-in-metastatic-conjunctival-melanoma
#20
REVIEW
Joel M Mor, Ludwig M Heindl
AIM: In this review, we outline similarities between conjunctival and skin melanoma as well as the effectiveness of combined BRAF/MEK inhibition in melanoma, and discuss the applicability of these agents in conjunctival melanoma. METHODS: The study provides a PubMed literature review. RESULTS: Conjunctival melanoma and skin melanoma are genetically and phenotypically related. Both tumors typically harbor BRAF mutations in more than 50% of cases...
July 2017: Ocular Oncology and Pathology
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