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retinoblastoma genetics

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https://www.readbyqxmd.com/read/28106538/a-polymorphism-in-mir-34b-c-as-a-potential-biomarker-for-early-onset-of-hereditary-retinoblastoma
#1
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...
January 13, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28069617/ocular-oncology-advances-in-retinoblastoma-uveal-melanoma-and-conjunctival-melanoma
#2
REVIEW
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 8, 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
#3
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
#4
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...
December 21, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27983729/genetic-screening-in-iranian-patients-with-retinoblastoma
#5
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)...
December 16, 2016: Eye
https://www.readbyqxmd.com/read/27978785/the-five-pediatric-cancers-update-on-genetic-implications
#6
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
#7
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
https://www.readbyqxmd.com/read/27859938/head-and-neck-squamous-cell-carcinoma-ambiguous-human-papillomavirus-status-elevated-p16-and-deleted-retinoblastoma-1
#8
Tim N Beck, Chad H Smith, Douglas B Flieder, Thomas J Galloway, John A Ridge, Erica A Golemis, Ranee Mehra
BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) is potentially curable, but treatment planning remains a challenge. Oncogenic human papillomavirus (HPV)-positive disease is often associated with a good prognosis compared with HPV-negative disease. However, some HPV-positive HNSCC recurs, often with distant metastases and significant treatment resistance. METHODS AND RESULTS: We performed p16 immunohistochemistry (IHC), in situ hybridization (ISH) for high-risk HPV, and comprehensive genomic profiling on oropharyngeal HNSCC with basaloid features and particularly aggressive disease course, noting a rare genetic event: a deleting mutation (exons 5-17) of the tumor suppressor and dominant cell cycle regulator retinoblastoma 1 (RB1)...
November 8, 2016: Head & Neck
https://www.readbyqxmd.com/read/27859428/low-p16-ink4a-expression-in-early-passage-human-prostate-basal-epithelial-cells-enables-immortalization-by-telomerase-expression-alone
#9
Mindy Kim Graham, Lorenzo Principessa, Lizamma Antony, Alan K Meeker, John T Isaacs
BACKGROUND: There are two principal senescence barriers that must be overcome to successfully immortalize primary human epithelial cells in culture, stress-induced senescence, and replicative senescence. The p16(INK4a) /retinoblastoma protein (p16/Rb) pathway mediates stress-induced senescence, and is generally upregulated by primary epithelial cells in response to the artificial conditions from tissue culture. Replicative senescence is associated with telomere loss. Following each round of cell division, telomeres progressively shorten...
November 8, 2016: Prostate
https://www.readbyqxmd.com/read/27849562/palbociclib-pd-0332991-a-selective-cdk4-6-inhibitor-restricts-tumour-growth-in-preclinical-models-of-hepatocellular-carcinoma
#10
Julien Bollard, Verónica Miguela, Marina Ruiz de Galarreta, Anu Venkatesh, C Billie Bian, Mark P Roberto, Victoria Tovar, Daniela Sia, Pedro Molina-Sánchez, Christie B Nguyen, Shigeki Nakagawa, Josep M Llovet, Yujin Hoshida, Amaia Lujambio
OBJECTIVE: Advanced hepatocellular carcinoma (HCC) is a lethal malignancy with limited treatment options. Palbociclib, a well-tolerated and selective CDK4/6 inhibitor, has shown promising results in the treatment of retinoblastoma (RB1)-positive breast cancer. RB1 is rarely mutated in HCC, suggesting that palbociclib could potentially be used for HCC therapy. Here, we provide a comprehensive characterisation of the efficacy of palbociclib in multiple preclinical models of HCC. DESIGN: The effects of palbociclib on cell proliferation, cellular senescence and cell death were investigated in a panel of human liver cancer cell lines, in ex vivo human HCC samples, in a genetically engineered mouse model of liver cancer, and in human HCC xenografts in vivo...
November 14, 2016: Gut
https://www.readbyqxmd.com/read/27832204/expression-of-the-lncrna-maternally-expressed-gene-3-meg3-contributes-to-the-control-of-lung-cancer-cell-proliferation-by-the-rb-pathway
#11
Traci L Kruer, Susan M Dougherty, Lindsey Reynolds, Elizabeth Long, Tanya de Silva, William W Lockwood, Brian F Clem
Maternally expressed gene 3 (MEG3, mouse homolog Gtl2) encodes a long noncoding RNA (lncRNA) that is expressed in many normal tissues, but is suppressed in various cancer cell lines and tumors, suggesting it plays a functional role as a tumor suppressor. Hypermethylation has been shown to contribute to this loss of expression. We now demonstrate that MEG3 expression is regulated by the retinoblastoma protein (Rb) pathway and correlates with a change in cell proliferation. Microarray analysis of mouse embryonic fibroblasts (MEFs) isolated from mice with genetic deletion of all three Rb family members (TKO) revealed a significant silencing of Gtl2/MEG3 expression compared to WT MEFs, and re-expression of Gtl2/MEG3 caused decrease in cell proliferation and increased apoptosis...
2016: PloS One
https://www.readbyqxmd.com/read/27826806/uptake-of-prenatal-diagnostic-testing-for-retinoblastoma-compared-to-other-hereditary-cancer-syndromes-in-the-netherlands
#12
Charlotte J Dommering, Lidewij Henneman, Annemarie H van der Hout, Marianne A Jonker, Carli M J Tops, Ans M W van den Ouweland, Rob B van der Luijt, Arjen R Mensenkamp, Frans B L Hogervorst, Egbert J W Redeker, Christine E M de Die-Smulders, Annette C Moll, Hanne Meijers-Heijboer
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families...
November 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27815188/bilateral-retinoblastoma-with-one-eye-manifesting-only-posterior-chamber-infiltration-and-no-retinal-involvement
#13
Diego Ossandon, Alan Kastner, Mario Zanolli, Federica Solanes, Verónica Pérez, Gabriela Repetto, Felipe Benavides, Carol L Shields
We report the case of a 23-month-old girl with bilateral retinoblastoma that demonstrated absence of retinal lesions in one eye but had an isolated white tumor in the posterior chamber. Genetic testing confirmed a novel and de novo RB1 germline mutation in the proband that was not carried by her parents. After intravenous chemotherapy and brachytherapy to the eye with apparently disease-free retina, anatomic and functional preservation of the eye was achieved. The patient has been in remission for 18 months...
December 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27739525/crispr-cas9-mediated-knockout-of-rb1-and-rbl1-leads-to-rapid-and-penetrant-retinoblastoma-development-in-xenopus-tropicalis
#14
Thomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, Dionysia Dimitrakopoulou, Jannick Leoen, Jurgen Haustraete, Annekatrien Boel, Wouter Steyaert, Trees Lepez, Dieter Deforce, Andy Willaert, David Creytens, Kris Vleminckx
Retinoblastoma is a pediatric eye tumor in which bi-allelic inactivation of the Retinoblastoma 1 (RB1) gene is the initiating genetic lesion. Although recently curative rates of retinoblastoma have increased, there are at this time no molecular targeted therapies available. This is, in part, due to the lack of highly penetrant and rapid retinoblastoma animal models that facilitate rapid identification of targets that allow therapeutic intervention. Different mouse models are available, all based on genetic deactivation of both Rb1 and Retinoblastoma-like 1 (Rbl1), and each showing different kinetics of retinoblastoma development...
October 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27694105/establishment-of-a-novel-retinoblastoma-rb-nude-mouse-model-by-intravitreal-injection-of-human-rb-y79-cells-comparison-of-in-vivo-analysis-versus-histological-follow-up
#15
Alexander V Tschulakow, Ulrich Schraermeyer, H Peter Rodemann, Sylvie Julien-Schraermeyer
Retinoblastoma (Rb) is the most frequent primary intraocular tumour in children and, if left untreated, can cause death. Preclinical animal models that mimic molecular, genetic, and cellular features of cancers are essential for studying cancer and searching for promising diagnosis and treatment modalities. There are several models described for Rb, but none of them fully meet our requirements. The aim of this study was to create a novel xenograft-nude mouse-model with broad application possibilities, which closely resembles the clinical observations of Rb patients and which could be used to investigate the development and spread of the tumour by using scanning laser ophthalmoscopy/optical coherence tomography (SLO/OCT) as well as histology methods...
November 15, 2016: Biology Open
https://www.readbyqxmd.com/read/27652204/histopathological-transformation-to-small-cell-lung-carcinoma-in-non-small-cell-lung-carcinoma-tumors
#16
REVIEW
Rita Dorantes-Heredia, José Manuel Ruiz-Morales, Fernando Cano-García
Lung cancer is the principal cause of cancer-related death worldwide. The use of targeted therapies, especially tyrosine kinase inhibitors (TKIs), in specific groups of patients has dramatically improved the prognosis of this disease, although inevitably some patients will develop resistance to these drugs during active treatment. The most common cancer-associated acquired mutation is the epidermal growth factor receptor (EGFR) Thr790Met (T790M) mutation. During active treatment with targeted therapies, histopathological transformation to small-cell lung carcinoma (SCLC) can occur in 3-15% of patients with non-small-cell lung carcinoma (NSCLC) tumors...
August 2016: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/27639385/epigenetic-regulation-of-human-retinoblastoma
#17
REVIEW
Usha Singh, Manzoor Ahmad Malik, Sandeep Goswami, Swati Shukla, Jasbir Kaur
Retinoblastoma is a rare type of eye cancer of the retina that commonly occurs in early childhood and mostly affects the children before the age of 5. It occurs due to the mutations in the retinoblastoma gene (RB1) which inactivates both alleles of the RB1. RB1 was first identified as a tumor suppressor gene, which regulates cell cycle components and associated with retinoblastoma. Previously, genetic alteration was known as the major cause of its occurrence, but later, it is revealed that besides genetic changes, epigenetic changes also play a significant role in the disease...
November 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/27634906/a-gene-expression-signature-of-retinoblastoma-loss-of-function-is-a-predictive-biomarker-of-resistance-to-palbociclib-in-breast-cancer-cell-lines-and-is-prognostic-in-patients-with-er-positive-early-breast-cancer
#18
Luca Malorni, Silvano Piazza, Yari Ciani, Cristina Guarducci, Martina Bonechi, Chiara Biagioni, Christopher D Hart, Roberto Verardo, Angelo Di Leo, Ilenia Migliaccio
Palbociclib is a CDK4/6 inhibitor that received FDA approval for treatment of hormone receptor positive (HR+) HER2 negative (HER2neg) advanced breast cancer. To better personalize patients treatment it is critical to identify subgroups that would mostly benefit from it. We hypothesize that complex alterations of the Retinoblastoma (Rb) pathway might be implicated in resistance to CDK4/6 inhibitors and aim to investigate whether signatures of Rb loss-of-function would identify breast cancer cell lines resistant to palbociclib...
September 13, 2016: Oncotarget
https://www.readbyqxmd.com/read/27632029/update-on-ophthalmic-oncology-2014-retinoblastoma-and-uveal-melanoma
#19
Jasmine H Francis, Ariana M Levin, David H Abramson
PURPOSE: The aim of this study was to review peer-reviewed articles on ophthalmic oncology (specifically retinoblastoma and uveal melanoma) published from January to December 2014. DESIGN: This study is a literature review. METHODS: The terms retinoblastoma and uveal melanoma were used in a MEDLINE literature search. Abstracts were studied, and the most relevant articles were selected for inclusion and further in-depth review. RESULTS: In retinoblastoma, more eyes are being salvaged due to intravitreal melphalan...
September 2016: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/27609158/adult-onset-retinoblastoma
#20
REVIEW
Sabyasachi Sengupta, Utsab Pan, Vikas Khetan
Retinoblastoma (RB) is the most common primary malignant intraocular tumor of childhood presenting usually before 5 years of age. RB in adults older than 20 years is extremely rare. A literature search using PubMed/PubMed Central, Scopus, Google Scholar, EMBASE, and Cochrane databases revealed only 45 cases till date. Over the past decade, there has been a significant increase in the number of such reports, indicating heightened level of suspicion among ophthalmologists. Compared to its pediatric counterpart, adult onset RB poses unique challenges in diagnosis and treatment...
July 2016: Indian Journal of Ophthalmology
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