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retinoblastoma genetics

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https://www.readbyqxmd.com/read/28473212/hepatocellular-adenoma-in-a-european-flatfish-limanda-limanda-genetic-alterations-in-laser-capture-micro-dissected-tissue-and-global-transcriptomic-approach
#1
Adélaïde Lerebours, Emma Chapman, Brett P Lyons, John P Bignell, Grant D Stentiford, Jeanette M Rotchell
Liver tumours in flatfish have been diagnosed using histopathology for decades to monitor the impacts of marine pollution. Here we describe the application of specific gene (retinoblastoma, Rb) profiling in laser capture micro-dissected samples, and a suppression subtractive hybridization (SSH) approach to isolate differentially expressed genes in hepatocellular adenoma (HCA) samples from dab, Limanda limanda. The Rb profiles from apparently normal and HCA micro-dissected samples of fish from the North Sea showed no significant difference, and genotypic heterogeneity within defined histological phenotypes was observed...
May 1, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28399338/genetics-and-molecular-diagnostics-in-retinoblastoma-an-update
#2
Sameh E Soliman, Hilary Racher, Chengyue Zhang, Heather MacDonald, Brenda L Gallie
Retinoblastoma is the prototype genetic cancer: in one or both eyes of young children, most retinoblastomas are initiated by biallelic mutation of the retinoblastoma tumor suppressor gene, RB1, in a developing retinal cell. All those with bilateral retinoblastoma have heritable cancer, although 95% have not inherited the RB1 mutation. Non-heritable retinoblastoma is always unilateral, with 98% caused by loss of both RB1 alleles from the tumor, whereas 2% have normal RB1 in tumors initiated by amplification of the MYCN oncogene...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28398584/genomic-profiles-of-low-grade-murine-gliomas-evolve-during-progression-to-glioblastoma
#3
Mark Vitucci, David M Irvin, Robert S McNeill, Ralf S Schmid, Jeremy M Simon, Harshil D Dhruv, Marni B Siegel, Andrea M Werneke, Ryan E Bash, Seungchan Kim, Michael E Berens, C Ryan Miller
Background: Gliomas are diverse neoplasms with multiple molecular subtypes. How tumor-initiating mutations relate to molecular subtypes as these tumors evolve during malignant progression remains unclear. Methods: We used genetically engineered mouse models, histopathology, genetic lineage tracing, expression profiling, and copy number analyses to examine how genomic tumor diversity evolves during the course of malignant progression from low- to high-grade disease...
April 7, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28397259/patient-understanding-of-genetic-information-influences-reproductive-decision-making-in-retinoblastoma
#4
A Foster, L Boyes, L Burgess, S Carless, V Bowyer, H Jenkinson, M Parulekar, J Ainsworth, J Hungerford, Z Onadim, M Sagoo, E Rosser, M A Reddy, T Cole
Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17-18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing in all cases enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring. We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16-45 years were included...
April 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28368972/the-recognition-of-cavitary-retinoblastoma-tumors-implications-for-management-and-genetic-analysis
#5
Shabana Chaudhry, Zerrin Onadim, Mandeep S Sagoo, M Ashwin Reddy
PURPOSE: To assess the role of consolidating adjuvant therapy for cavitary retinoblastoma and to understand if there is any phenotype-genotype correlation. METHODS: Patients with retinoblastomas having ophthalmoscopically visible cavities between 2004 and 2014 in whom 4 to 6 cycles of systemic chemotherapy were given. RESULTS: Eighteen eyes of 17 patients displayed cavitary retinoblastomas. This represented 6.8% of 250 patients. Mean age at diagnosis was 13 months; 5 unilateral (29%) and 12 bilateral (71%)...
March 30, 2017: Retina
https://www.readbyqxmd.com/read/28323486/enterolactone-induces-g1-phase-cell-cycle-arrest-in-nonsmall-cell-lung-cancer-cells-by-downregulating-cyclins-and-cyclin-dependent-kinases
#6
Shireen Chikara, Kaitlin Lindsey, Harsharan Dhillon, Sujan Mamidi, Jeffrey Kittilson, Melpo Christofidou-Solomidou, Katie M Reindl
Flaxseed is a rich source of the plant lignan secoisolariciresinol diglucoside (SDG), which is metabolized into mammalian lignans enterodiol (ED) and enterolactone (EL) in the digestive tract. The anticancer properties of these lignans have been demonstrated for various cancer types, but have not been studied for lung cancer. In this study, we investigated the anticancer effects of EL for several nonsmall cell lung cancer (NSCLC) cell lines of various genetic backgrounds. EL inhibited the growth of A549, H441, and H520 lung cancer cells in concentration- and time-dependent manners...
May 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28320736/arabidopsis-retinoblastoma-related-directly-regulates-dna-damage-responses-through-functions-beyond-cell-cycle-control
#7
Beatrix M Horvath, Hana Kourova, Szilvia Nagy, Edit Nemeth, Zoltan Magyar, Csaba Papdi, Zaki Ahmad, Gabino F Sanchez-Perez, Serena Perilli, Ikram Blilou, Aladár Pettkó-Szandtner, Zsuzsanna Darula, Tamas Meszaros, Pavla Binarova, Laszlo Bogre, Ben Scheres
The rapidly proliferating cells in plant meristems must be protected from genome damage. Here, we show that the regulatory role of the Arabidopsis RETINOBLASTOMA RELATED (RBR) in cell proliferation can be separated from a novel function in safeguarding genome integrity. Upon DNA damage, RBR and its binding partner E2FA are recruited to heterochromatic γH2AX-labelled DNA damage foci in an ATM- and ATR-dependent manner. These γH2AX-labelled DNA lesions are more dispersedly occupied by the conserved repair protein, AtBRCA1, which can also co-localise with RBR foci...
May 2, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28293272/multiple-molecular-interactions-redundantly-contribute-to-rb-mediated-cell-cycle-control
#8
Michael J Thwaites, Matthew J Cecchini, Srikanth Talluri, Daniel T Passos, Jasmyne Carnevale, Frederick A Dick
BACKGROUND: The G1-S phase transition is critical to maintaining proliferative control and preventing carcinogenesis. The retinoblastoma tumor suppressor is a key regulator of this step in the cell cycle. RESULTS: Here we use a structure-function approach to evaluate the contributions of multiple protein interaction surfaces on pRB towards cell cycle regulation. SAOS2 cell cycle arrest assays showed that disruption of three separate binding surfaces were necessary to inhibit pRB-mediated cell cycle control...
2017: Cell Division
https://www.readbyqxmd.com/read/28228136/circulating-tumor-cells-capture-disease-evolution-in-advanced-prostate-cancer
#9
Justin Lack, Marc Gillard, Maggie Cam, Gladell P Paner, David J VanderWeele
BACKGROUND: Genetic analysis of advanced cancer is limited by availability of representative tissue. Biopsies of prostate cancer metastasized to bone are invasive with low quantity of tumor tissue. The prostate cancer genome is dynamic, however, with temporal heterogeneity requiring repeated evaluation as the disease evolves. Circulating tumor cells (CTCs) offer an alternative, "liquid biopsy", though single CTC sequencing efforts are laborious with high failure rates. METHODS: We performed exome sequencing of matched treatment-naïve tumor tissue, castrate resistant tumor tissue, and pooled CTC samples, and compared mutations identified in each...
February 23, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28203301/progress-with-palbociclib-in-breast-cancer-latest-evidence-and-clinical-considerations
#10
REVIEW
Andrea Rocca, Alessio Schirone, Roberta Maltoni, Sara Bravaccini, Lorenzo Cecconetto, Alberto Farolfi, Giuseppe Bronte, Daniele Andreis
Deregulation of the cell cycle is a hallmark of cancer, and research on cell cycle control has allowed identification of potential targets for anticancer treatment. Palbociclib is a selective inhibitor of the cyclin-dependent kinases 4 and 6 (CDK4/6), which are involved, with their coregulatory partners cyclin D, in the G1-S transition. Inhibition of this step halts cell cycle progression in cells in which the involved pathway, including the retinoblastoma protein (Rb) and the E2F family of transcription factors, is functioning, although having been deregulated...
February 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/28191765/generation-of-osteosarcomas-from-a-combination-of-rb-silencing-and-c-myc-overexpression-in-human-mesenchymal-stem-cells
#11
Jir-You Wang, Po-Kuei Wu, Paul Chih-Hsueh Chen, Chia-Wen Lee, Wei-Ming Chen, Shih-Chieh Hung
Osteosarcoma (OS) was a malignant tumor occurring with unknown etiology that made prevention and early diagnosis difficult. Mesenchymal stem cells (MSCs), which were found in bone marrow, were claimed to be a possible origin of OS but with little direct evidence. We aimed to characterize OS cells transformed from human MSCs (hMSCs) and identify their association with human primary OS cells and patient survival. Genetic modification with p53 or retinoblastoma (Rb) knockdown and c-Myc or Ras overexpression was applied for hMSC transformation...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28165337/a-mouse-model-of-mycn-driven-retinoblastoma-reveals-mycn-independent-tumor-reemergence
#12
Nan Wu, Deshui Jia, Breanna Bates, Ryan Basom, Charles G Eberhart, David MacPherson
The most frequent focal alterations in human retinoblastoma are mutations in the tumor-suppressor gene retinoblastoma (RB) and amplification of the oncogene MYCN. Whether MYCN overexpression drives retinoblastoma has not been assessed in model systems. Here, we have shown that Rb inactivation collaborates strongly with MYCN overexpression and leads to retinoblastoma in mice. Overexpression of human MYCN in the context of Rb inactivation increased the expression of MYC-, E2F-, and ribosome-related gene sets, promoted excessive proliferation, and led to retinoblastoma with anaplastic changes...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28134624/dosage-dependent-copy-number-gains-in-e2f1-and-e2f3-drive-hepatocellular-carcinoma
#13
Lindsey N Kent, Sooin Bae, Shih-Yin Tsai, Xing Tang, Arunima Srivastava, Christopher Koivisto, Chelsea K Martin, Elisa Ridolfi, Grace C Miller, Sarah M Zorko, Emilia Plevris, Yannis Hadjiyannis, Miguel Perez, Eric Nolan, Raleigh Kladney, Bart Westendorp, Alain de Bruin, Soledad Fernandez, Thomas J Rosol, Kamal S Pohar, James M Pipas, Gustavo Leone
Disruption of the retinoblastoma (RB) tumor suppressor pathway, either through genetic mutation of upstream regulatory components or mutation of RB1 itself, is believed to be a required event in cancer. However, genetic alterations in the RB-regulated E2F family of transcription factors are infrequent, casting doubt on a direct role for E2Fs in driving cancer. In this work, a mutation analysis of human cancer revealed subtle but impactful copy number gains in E2F1 and E2F3 in hepatocellular carcinoma (HCC)...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28106538/a-polymorphism-in-mir-34b-c-as-a-potential-biomarker-for-early-onset-of-hereditary-retinoblastoma
#14
Ivna N S R Carvalho, Adriana H O Reis, Anna C E Dos Santos, Fernando R Vargas
BACKGROUND: Retinoblastoma (RB) is a malignant pediatric tumor and, mainly because of late diagnosis, most patients undergo enucleation. The tumor almost always initiates by two inactivation events at the RB1 gene. Single nucleotide polymorphisms (SNPs) in p53 pathway have been found to represent genetic modifiers of RB. OBJECTIVE: To investigate whether a SNP (rs4938723T > C) in mir-34b/c gene, a key effector of p53, could influence RB risk and patients' age of onset...
2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28069617/ocular-oncology-advances-in-retinoblastoma-uveal-melanoma-and-conjunctival-melanoma
#15
Marina Vasalaki, Ido D Fabian, M Ashwin Reddy, Victoria M L Cohen, Mandeep S Sagoo
Background: Retinoblastoma, uveal and conjunctival melanomas are important malignancies within the remit of ocular oncology. Outlined are the diagnostic features and management principles, as well as advancements in the field and current challenges. Sources of data: Original papers, reviews and guidelines. Areas of agreement: Most eyes with retinoblastoma (International Intraocular Retinoblastoma Classification (IIRC) Group A-D) are salvaged, whereas advanced cases (Group E) remain a challenge...
January 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28031113/-genomelab-tm-gexp-analysis-system-to-detect-apoptosis-associated-genes-in-a549-cells-treated-by-recombinant-human-il-24-combined-with-cisplatin
#16
Jinjin Guo, Shaohui Wang, Wanbang Sun, Yanli Tang, Guangbin Jiang, Mingying Song
Objective To investigate the changes of apoptosis-associated genes in human lung adenocarcinoma cell line A549 after treated by the recombinant human interleukin-24 (rhIL-24) combined with cisplatin (DDP). Methods The mRNA levels of Bax, Bcl-2, survivin, caspase-3, retinoblastoma (Rb) gene, p53 were analyzed by GenomeLab(TM) GeXP genetic analysis system after A549 cells were treated with 160 ng/mL rhIL-24 or 3 μg/mL DDP or 160 ng/mL rhIL-24 combined with 3 μg/mL DDP. Results The rhIL-24 up-regulated the levels of Bax, Rb, caspase-3 mRNAs and down-regulated Bcl-2, survivin mRNAs, but the change of p53 mRNA was not regular...
January 2017: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
https://www.readbyqxmd.com/read/28000698/mosaicism-and-prenatal-diagnosis-options-insights-from-retinoblastoma
#17
Catherine Dehainault, Lisa Golmard, Gaël A Millot, Agathe Charpin, Anthony Laugé, Julien Tarabeux, Isabelle Aerts, Nathalie Cassoux, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Claude Houdayer
In sporadic cases, a post-zygotic mutational event signifies a somatic mosaicism in the affected child only, which implies that these mutations affect only a portion of the body. Therefore siblings do not need follow-up. On the other hand, a pre-zygotic mutation transmitted by an unaffected mosaic parent implies recurrent risks in offspring. To better estimate the contribution of pre- and post-zygotic events, we analysed 124 consecutive bilateral retinoblastoma probands, carrying a heterozygous RB1 pathogenic variant and their unaffected, non-carrier parents...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27983729/genetic-screening-in-iranian-patients-with-retinoblastoma
#18
K Shahraki, A Ahani, P Sharma, M Faranoush, G Bahoush, I Torktaz, W A Gahl, M Naseripour, B Behnam
PurposeThe most common intraocular tumor in childhood, retinoblastoma, is largely associated with mutations in the RB1 gene. In the most comprehensive RB1 screening in Iran, we evaluated the RB1 mutations in 106 patients with retinoblastoma, including 73 bilateral (heritable) and 33 unilateral (sporadic) cases.Patients and methodsMutations were identified using amplification refractory mutation system (ARMS) PCR and direct sequencing of the 27 coding exons of RB1 and multiplex ligation-dependent probe amplification (MLPA)...
April 2017: Eye
https://www.readbyqxmd.com/read/27978785/the-five-pediatric-cancers-update-on-genetic-implications
#19
Stacy Cooper, Jeffrey Rubens, Joann Bodurtha
Pediatric cancer has undergone significant improvements in survival over the past several decades, in part due to a better understanding of the underlying genetic aberrations of each oncologic diagnosis, which has allowed for more effective targeted therapies. Pediatric brain tumors, leukemia, lymphoma, Wilms tumor, and retinoblastoma are exemplary pediatric cancers that each have specific epidemiology regarding children at risk as well as characteristic associated genetic lesions. These genetic features are more commonly being used to provide risk stratification, as well as to identify novel pathways for targeted therapy...
December 13, 2016: Current Pediatric Reviews
https://www.readbyqxmd.com/read/27869555/the-influence-of-the-ctip-polymorphism-q418p-on-homologous-recombination-and-predisposition-to-radiation-induced-tumorigenesis-mainly-raml-in-mice
#20
Agata Patel, Jennifer Anderson, Daniela Kraft, Rosemary Finnon, Paul Finnon, Cheryl L Scudamore, Grainne Manning, Robert Bulman, Natalie Brown, Simon Bouffler, Peter O'Neill, Christophe Badie
Exposure to ionizing radiation increases the incidence of acute myeloid leukemia (AML), which has been diagnosed in Japanese atomic bombing survivors, as well as patients treated with radiotherapy. The genetic basis for susceptibility to radiation-induced AML is not well characterized. We previously identified a candidate murine gene for susceptibility to radiation-induced AML (rAML): C-terminal binding protein (CTBP)-interacting protein (CTIP)/retinoblastoma binding protein 8 (RBBP8). This gene is essential for embryonic development, double-strand break (DSB) resection in homologous recombination (HR) and tumor suppression...
December 2016: Radiation Research
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