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https://www.readbyqxmd.com/read/28099935/frequent-amplification-of-receptor-tyrosine-kinase-genes-in-welldifferentiated-dedifferentiated-liposarcoma
#1
Naofumi Asano, Akihiko Yoshida, Sachiyo Mitani, Eisuke Kobayashi, Bunsyo Shiotani, Motokiyo Komiyama, Hiroyuki Fujimoto, Hirokazu Chuman, Hideo Morioka, Morio Matsumoto, Masaya Nakamura, Takashi Kubo, Mamoru Kato, Takashi Kohno, Akira Kawai, Tadashi Kondo, Hitoshi Ichikawa
Well-differentiated liposarcoma (WDLPS) and dedifferentiated liposarcoma (DDLPS) are closely related tumors commonly characterized by MDM2/CDK4 gene amplification, and lack clinically effective treatment options when inoperable. To identify novel therapeutic targets, we performed targeted genomic sequencing analysis of 19 WDLPS and 37 DDLPS tumor samples using a panel of 104 cancer-related genes (NCC oncopanel v3) developed specifically for genomic testing to select suitable molecular targeted therapies. The results of this analysis indicated that these sarcomas had very few gene mutations and a high frequency of amplifications of not only MDM2 and CDK4 but also other genes...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28093192/spectrum-of-mutations-in-leiomyosarcomas-identified-by-clinical-targeted-next-generation-sequencing
#2
Paul J Lee, Naomi S Yoo, Ian S Hagemann, John D Pfeifer, Catherine E Cottrell, Haley J Abel, Eric J Duncavage
Recurrent genomic mutations in uterine and non-uterine leiomyosarcomas have not been well established. Using a next generation sequencing (NGS) panel of common cancer-associated genes, 25 leiomyosarcomas arising from multiple sites were examined to explore genetic alterations, including single nucleotide variants (SNV), small insertions/deletions (indels), and copy number alterations (CNA). Sequencing showed 86 non-synonymous, coding region somatic variants within 151 gene targets in 21 cases, with a mean of 4...
January 13, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28092948/oral-cell-dna-adducts-as-potential-biomarkers-for-lung-cancer-susceptibility-in-cigarette-smokers
#3
Stephen S Hecht
This perspective considers the use of oral cell DNA adducts, together with exposure and genetic information, to potentially identify those cigarette smokers at highest risk for lung cancer, so that appropriate preventive measures could be initiated at a relatively young age before too much damage has been done. There are now well established and validated analytical methods for the quantitation of urinary and serum metabolites of tobacco smoke toxicants and carcinogens. These metabolites provide a profile of exposure and in some cases lung cancer risk, but they do not yield information on the critical DNA damage parameter that leads to mutations in cancer growth control genes such as KRAS and TP53...
January 17, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28073843/active-estrogen-receptor-alpha-signaling-in-ovarian-cancer-models-and-clinical-specimens
#4
Courtney L Andersen, Matthew J Sikora, Michelle M Boisen, Tianzhou Ma, Alec Christie, George Tseng, Yong Seok Park, Soumya Luthra, Uma Chandran, Paul Haluska, Gina Mantia-Smaldone, Kunle Odunsi, Karen McLean, Adrian V Lee, Esther Elishaev, Robert P Edwards, Steffi Oesterreich
PURPOSE: High-grade serous ovarian cancer (HGSOC) is an aggressive disease with few available targeted therapies. Despite high expression of estrogen receptor-alpha in ~80% of HGSOC and some small but promising clinical trials of endocrine therapy, estrogen receptor-alpha has been understudied as a target in this disease. We sought to identify hormone-responsive, estrogen receptor-alpha-dependent HGSOC. EXPERIMENTAL DESIGN: We characterized endocrine response in HGSOC cells across culture conditions (2-D, 3-D, forced suspension) and in patient-derived xenograft (PDX) explants, assessing proliferation and gene expression...
January 10, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28071986/evaluation-of-a-two-year-routine-application-of-molecular-testing-of-thyroid-fine-needle-aspirations-fna-using-a-7-gene-panel-in-a-primary-referral-setting-in-germany
#5
Markus Eszlinger, Katharina Böhme, Maha Ullmann, Fabian Görke, Udo Siebolts, Anna Neumann, Christiane Franzius, Sabine Adam, Thomas Molwitz, Christian Landvogt, Bassam Amro, Anja Hach, Berit Feldmann, Dieter Graf, Antje Wefer, Rainer Niemann, Catharina Bullmann, Günther Klaushenke, Reinhard Santen, Gregor Tönshoff, Velimir Ivancevic, Andreas Kögler, Eberhard Bell, Bernd Lorenz, Gerald Kluge, Christoph Hartenstein, Ilka Ruschenburg, Ralf Paschke
BACKGROUND: Major differences with respect to the diagnostic performance of a "ruling in" approach in the pre-surgical diagnosis of indeterminate thyroid fine needle aspirations (FNAs) have been reported. Therefore, the aim of this prospective multicenter study was to investigate the specific diagnostic impact of mutation testing using a 7-gene-panel in a routine primary referral setting analyzing FNAs from endocrinology and nuclear medicine practices in Germany. METHODS: RNA and DNA was extracted from 564 routine air-dried FNA smears obtained from 64 physicians and cytologically graded by one experienced cytopathologist...
January 10, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28067760/dna-methylation-targeting-the-dnmt-hmt-crosstalk-challenge
#6
REVIEW
Omar Castillo-Aguilera, Patrick Depreux, Ludovic Halby, Paola B Arimondo, Laurence Goossens
Chromatin can adopt a decondensed state linked to gene transcription (euchromatin) and a condensed state linked to transcriptional repression (heterochromatin). These states are controlled by epigenetic modulators that are active on either the DNA or the histones and are tightly associated to each other. Methylation of both DNA and histones is involved in either the activation or silencing of genes and their crosstalk. Since DNA/histone methylation patterns are altered in cancers, molecules that target these modifications are interesting therapeutic tools...
January 5, 2017: Biomolecules
https://www.readbyqxmd.com/read/28062705/novel-p21-activated-kinase-4-pak4-allosteric-modulators-overcome-drug-resistance-and-stemness-in-pancreatic-ductal-adenocarcinoma
#7
Amro Aboukameel, Irfana Muqbil, William Senapedis, Erkan Baloglu, Yosef Landesman, Sharon Shacham, Michael Kauffman, Philip A Philip, Ramzi M Mohammad, Asfar S Azmi
The p21-activated kinase 4 (PAK4) is a key downstream effector of the Rho family GTPases and is found to be overexpressed in pancreatic ductal adenocarcinoma (PDAC) cells but not in normal human pancreatic ductal epithelia (HPDE). Gene copy number amplification studies in PDAC patient cohorts confirmed PAK4 amplification making it an attractive therapeutic target in PDAC. We investigated the antitumor activity of novel PAK4 allosteric modulators (PAM) on a panel of PDAC cell lines and chemotherapy-resistant flow-sorted PDAC cancer stem cells (CSC)...
January 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28061772/use-of-liquid-biopsies-to-monitor-disease-progression-in-a-sarcoma-patient-a-case-report
#8
Heidi M Namløs, Olga Zaikova, Bodil Bjerkehagen, Daniel Vodák, Eivind Hovig, Ola Myklebost, Kjetil Boye, Leonardo A Meza-Zepeda
BACKGROUND: Many patients experience local recurrence or metastases after receiving potentially curative treatment, and early detection of these events is important for disease control. Recent technological advances make it possible to use blood plasma containing circulating cell-free tumour DNA (ctDNA) as a liquid biopsy. In this case report we show how serial liquid biopsies can be used to monitor the disease course and detect disease recurrence in a sarcoma patient. CASE PRESENTATION: A 55-year-old male presented with a rapidly growing, painful palpable mass in the left groin region, and a biopsy revealed a high-grade malignant spindle cell sarcoma...
January 6, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28061466/prostate-cancer-proteomics-current-trends-and-future-perspectives-for-biomarker-discovery
#9
Cristiana Pistol Tanase, Elena Codrici, Ionela Daniela Popescu, Simona Mihai, Ana-Maria Enciu, Laura Georgiana Necula, Adrian Preda, Gener Ismail, Radu Albulescu
The clinical and fundamental research in prostate cancer - the most common urological cancer in men - is currently entering the proteomic and genomic era. The focus has switched from one single marker (PSA) to panels of biomarkers (including proteins involved in ribosomal function and heat shock proteins). Novel genetic markers (such as Transmembrane protease serine 2 (TMPRSS2)-ERG fusion gene mRNA) or prostate cancer gene 3 (PCA3) had already entered the clinical practice, raising the question whether subsequent protein changes impact the evolution of the disease and the response to treatment...
January 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28061448/targeting-basal-like-breast-tumors-with-bromodomain-and-extraterminal-domain-bet-and-polo-like-kinase-inhibitors
#10
Cristina Nieto-Jiménez, Ana Alcaraz-Sanabria, Javier Pérez-Peña, Verónica Corrales-Sánchez, Gemma Serrano-Heras, Eva M Galán-Moya, Leticia Serrano-Oviedo, Juan Carlos Montero, Miguel Burgos, Juan Llopis, Atanasio Pandiella, Alberto Ocaña
Metastatic triple negative breast cancer (TNBC) is an incurable disease with limited therapeutic options, and no targeted therapies available. Triple negative tumors and the basal-like genomic subtype, are both characterized by a high proliferation rate and an increase in cell division. In this context, protein kinases involved in the mitotic formation have a relevant role in this tumor subtype. Recently, Bromodomain and extraterminal domain (BET) inhibitors have shown to be active in this disease by modulating the expression of several transcription factors...
January 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28052017/rhcg-and-tcaf1-promoter-hypermethylation-predicts-biochemical-recurrence-in-prostate-cancer-patients-treated-by-radical-prostatectomy
#11
Siri H Strand, Michal Switnicki, Mia Moller, Christa Haldrup, Tine M Storebjerg, Jakob Hedegaard, Iver Nordentoft, Soren Hoyer, Michael Borre, Jakob S Pedersen, Peter J Wild, Jong Y Park, Torben F Orntoft, Karina D Sorensen
PURPOSE: The lack of biomarkers that can distinguish aggressive from indolent prostate cancer has caused substantial overtreatment of clinically insignificant disease. Here, by genome-wide DNA methylome profiling, we sought to identify new biomarkers to improve the accuracy of prostate cancer diagnosis and prognosis. EXPERIMENTAL DESIGN: Eight novel candidate markers, COL4A6, CYBA, TCAF1 (FAM115A), HLF, LINC01341 (LOC149134), LRRC4, PROM1, and RHCG, were selected from Illumina Infinium HumanMethylation450 BeadChip analysis of 21 tumor (T) and 21 non-malignant (NM) prostate specimens...
December 30, 2016: Oncotarget
https://www.readbyqxmd.com/read/28051275/ratio-of-proliferation-markers-and-hsp90-gene-expression-as-a-predictor-of-pathological-complete-response-in-breast-cancer-neoadjuvant-chemotherapy
#12
Michal Jarzab, Monika Kowal, Wieslaw Bal, Malgorzata Oczko-Wojciechowska, Justyna Rembak-Szynkiewicz, Malgorzata Kowalska, Ewa Stobiecka, Ewa Chmielik, Tomasz Tyszkiewicz, Malgorzata Kaszuba, Elzbieta Nowicka, Barbara Lange, Agnieszka Czarniecka, Jolanta Krajewska, Alicja Dyla, Miroslaw Dobrut, Dariusz Lange, Barbara Jarzab, Barbara Bobek-Billewicz, Rafal Tarnawski
INTRODUCTION: Prediction of response to preoperative breast cancer chemotherapy may offer a substantial optimization of medical management of this disease. The most efficient prediction would be done a priori, before the start of chemotherapy and based on the biological features of patient and tumor. Numerous markers have been proposed but none of them has been applied as a routine. The role of MKI67 and HSP90 expression has been recently suggested to predict treatment sensitivity in HER2-positive breast cancer...
2016: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/28051113/a-comprehensive-custom-panel-design-for-routine-hereditary-cancer-testing-preserving-control-improving-diagnostics-and-revealing-a-complex-variation-landscape
#13
Elisabeth Castellanos, Bernat Gel, Inma Rosas, Eva Tornero, Sheila Santín, Raquel Pluvinet, Juan Velasco, Lauro Sumoy, Jesús Del Valle, Manuel Perucho, Ignacio Blanco, Matilde Navarro, Joan Brunet, Marta Pineda, Lidia Feliubadaló, Gabi Capellá, Conxi Lázaro, Eduard Serra
We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We improved bait design, tested different NGS platforms and created a clinically driven custom data analysis pipeline. The I2HCP panel was developed using a training set of hereditary colorectal cancer, hereditary breast and ovarian cancer and neurofibromatosis patients and reached an accuracy, analytical sensitivity and specificity greater than 99%, which was maintained in a validation set...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28050010/benchmarking-of-whole-exome-sequencing-and-ad-hoc-designed-panels-for-genetic-testing-of-hereditary-cancer
#14
Lídia Feliubadaló, Raúl Tonda, Mireia Gausachs, Jean-Rémi Trotta, Elisabeth Castellanos, Adriana López-Doriga, Àlex Teulé, Eva Tornero, Jesús Del Valle, Bernat Gel, Marta Gut, Marta Pineda, Sara González, Mireia Menéndez, Matilde Navarro, Gabriel Capellá, Ivo Gut, Eduard Serra, Joan Brunet, Sergi Beltran, Conxi Lázaro
Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eighty-three genes were targeted by the two panels and exome sequencing...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28049581/validation-of-a-next-generation-sequencing-panel-for-detection-of-hotspot-cancer-mutations-in-a-clinical-laboratory
#15
Reza Shahsiah, Jenefer DeKoning, Saeed Samie, Seyed Ziaeddin Latifzadeh, Zahra Mehdizadeh Kashi
Recent advances in sequencing technologies have enabled us to scrutinize the versatile underlying mechanisms of cancer more precisely. However, adopting these new sophisticated technologies is challenging for clinical labs as it involves complex workflows, and requires validation for diagnostic purposes. The aim of this work is towards the analytical validation of a next generation sequencing (NGS) panel for cancer hotspot mutation analysis. Characterized formalin-fixed paraffin-embedded (FFPE) samples including biopsy specimens and cell-lines were examined by NGS methods utilizing the Ion Torrent™ Oncomine™ Focus DNA Assay and the PGM™ platform...
December 16, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28045912/claudin-low-breast-cancer-clinical-pathological-characteristics
#16
Kay Dias, Anna Dvorkin-Gheva, Robin M Hallett, Ying Wu, John Hassell, Gregory R Pond, Mark Levine, Tim Whelan, Anita L Bane
Claudin-low breast cancer is a molecular type of breast cancer originally identified by gene expression profiling and reportedly associated with poor survival. Claudin-low tumors have been recognised to preferentially display a triple-negative phenotype, however only a minority of triple-negative breast cancers are claudin-low. We sought to identify an immunohistochemical profile for claudin-low tumors that could facilitate their identification in formalin fixed paraffin embedded tumor material. First, an in silico collection of ~1600 human breast cancer expression profiles was assembled and all claudin-low tumors identified...
2017: PloS One
https://www.readbyqxmd.com/read/28045615/cost-comparison-of-genetic-testing-strategies-in-women-with-epithelial-ovarian-cancer
#17
Jonathan R Foote, Micael Lopez-Acevedo, Adam H Buchanan, Angeles Alvarez Secord, Paula S Lee, Cynthia Fountain, Evan R Myers, David E Cohn, Shelby D Reed, Laura J Havrilesky
PURPOSE: The advent of multigene panels has increased genetic testing options for women with epithelial ovarian cancer (EOC). We designed a decision model to compare costs and probabilities of identifying a deleterious mutation or variant of uncertain significance (VUS) using different genetic testing strategies. METHODS: A decision model was developed to compare costs and outcomes of two testing strategies for women with EOC: multigene testing (MGT) versus single-gene testing for BRCA1/2...
January 3, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28039034/development-and-evaluation-of-a-novel-rt-qpcr-based-test-for-the-quantification-of-her2-gene-expression-in-breast-cancer
#18
Hicham El Hadi, Imane Abdellaoui-Maane, Denise Kottwitz, Manal El Amrani, Nadia Bouchoutrouch, Zineb Qmichou, Mehdi Karkouri, Hicham ElAttar, Hassan Errihani, Pedro L Fernandez, Youssef Bakri, Hassan Sefrioui, Abdeladim Moumen
Accurate measurement of Human epidermal growth factor receptor (HER2) gene expression is central for breast or stomach cancer therapy orientation and prognosis. The current standards testing methods for HER2 expression are immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). In the current study, we explored the use of quantitative real time reverse transcription-PCR (RT-qPCR) as a potential method for the accurate relative quantification of the HER2 gene using formalin fixed paraffin embedded (FFPE) breast cancer biopsy samples...
December 28, 2016: Gene
https://www.readbyqxmd.com/read/28035402/transforming-growth-factor-%C3%AE-1-suppresses-bone-morphogenetic-protein-2-induced-mesenchymal-epithelial-transition-in-hsc-4-human-oral-squamous-cell-carcinoma-cells-via-smad1-5-9-pathway-suppression
#19
Takahiro Chiba, Akira Ishisaki, Seiko Kyakumoto, Toshiyuki Shibata, Hiroyuki Yamada, Masaharu Kamo
Squamous cell carcinoma is the most common cancer in the oral cavity. We previously demonstrated that transforming growth factor-β1 (TGF-β1) promotes the epithelial-mesenchymal transition (EMT) of human oral squamous cell carcinoma (hOSCC) cells; however, it remains to be clarified whether the TGF-β superfamily member bone morphogenetic protein (BMP) affects this process in hOSCC cells. Here, we examined the independent and collective effects of TGF-β1 and BMP-2 on EMT and mesenchymal‑epithelial transition (MET) in a panel of four hOSCC cell lines...
February 2017: Oncology Reports
https://www.readbyqxmd.com/read/28033443/association-between-loss-of-function-mutations-within-the-fancm-gene-and-early-onset-familial-breast-cancer
#20
Guido Neidhardt, Jan Hauke, Juliane Ramser, Eva Groß, Andrea Gehrig, Clemens R Müller, Anne-Karin Kahlert, Karl Hackmann, Ellen Honisch, Dieter Niederacher, Stefanie Heilmann-Heimbach, André Franke, Wolfgang Lieb, Holger Thiele, Janine Altmüller, Peter Nürnberg, Kristina Klaschik, Corinna Ernst, Nina Ditsch, Frank Jessen, Alfredo Ramirez, Barbara Wappenschmidt, Christoph Engel, Kerstin Rhiem, Alfons Meindl, Rita K Schmutzler, Eric Hahnen
Importance: Germline mutations in established moderately or highly penetrant risk genes for breast cancer (BC) and/or ovarian cancer (OC), including BRCA1 and BRCA2, explain fewer than half of all familial BC and/or OC cases. Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel BC predisposition gene, while the analysis of the entire coding region of the FANCM gene in familial index cases and geographically matched controls is pending...
December 29, 2016: JAMA Oncology
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