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https://www.readbyqxmd.com/read/28637022/cdkn2a-methylation-in-esophageal-cancer-a-meta-analysis
#1
Chongchang Zhou, Jinyun Li, Qun Li
CDKN2A is a tumor suppressor gene and is frequently inactivated in human cancers by hypermethylation of its promoter. However, the role and diagnostic value of CDKN2A methylation in esophageal cancer (EC) remains controversial. Therefore, we performed a meta-analysis, including data from 42 articles (2656 ECs, 612 precancerous lesions, and 2367 controls). A significant increase in the frequency of CDKN2A methylation was identified during EC carcinogenesis: cancer vs. controls, odds ratio (OR) = 12.60 (95 % CI, 8...
June 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28631637/an-integrated-genomic-profile-that-includes-copy-number-alterations-is-highly-predictive-of-minimal-residual-disease-status-in-childhood-precursor-b-lineage-acute-lymphoblastic-leukemia
#2
Nikhil Patkar, P G Subramanian, Prashant Tembhare, Sneha Mandalia, Gaurav Chaterjee, Nikhil Rabade, Rohan Kodgule, Karishma Chopra, Asma Bibi, Swapnali Joshi, Shruti Chaudhary, Russel Mascerhenas, Pratibha Kadam-Amare, Gaurav Narula, Brijesh Arora, Shripad Banavali, Sumeet Gujral
INTRODUCTION: Copy number alterations (CNA) have been described in childhood precursor B-lineage acute lymphoblastic leukemia (B-ALL) which in conjunction with chromosomal abnormalities drive leukemogenesis. There is no consensus on the clinical incorporation of CNA in B-ALL. An integrated genomic classification (IGC) has been proposed which includes CNA and cytogenetics. METHODS: We correlated this IGC with immunophenotypic minimal residual disease (MRD) as well as other standard criteria for 245 patients of B-ALL such as National Cancer Institute (NCI) risk, D+8 prednisolone response, cytogenetics, and ploidy status...
April 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28621320/genomic-analysis-of-follicular-dendritic-cell-sarcoma-by-molecular-inversion-probe-array-reveals-tumor-suppressor-driven-biology
#3
Erica F Andersen, Christian N Paxton, Dennis P O'Malley, Abner Louissaint, Jason L Hornick, Gabriel K Griffin, Yuri Fedoriw, Young S Kim, Lawrence M Weiss, Sherrie L Perkins, Sarah T South
Follicular dendritic cell sarcoma is a rare malignant neoplasm of dendritic cell origin that is currently poorly characterized by genetic studies. To investigate whether recurrent genomic alterations may underlie the biology of follicular dendritic cell sarcoma and to identify potential contributory regions and genes, molecular inversion probe array analysis was performed on 14 independent formalin-fixed, paraffin-embedded samples. Abnormal genomic profiles were observed in 11 out of 14 (79%) cases. The majority showed extensive genomic complexity that was predominantly represented by hemizygous losses affecting multiple chromosomes...
June 16, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28619518/in-vitro-cytotoxic-potential-of-friedelin-in-human-mcf-7-breast-cancer-cell-regulate-early-expression-of-cdkn2a-and-prb1-neutralize-mdm2-p53-amalgamation-and-functional-stabilization-of-p53
#4
Pandurangan Subash-Babu, David K Li, Ali A Alshatwi
We aimed to explore the cytotoxic and apoptotic effect of friedelin on breast cancer MCF-7 cells. Cytotoxic effect of friedelin on MCF-7 cells was analyzed using MTT, cell and nuclear morphology. The apoptosis mechanism of friedelin on MCF-7 cells was analyzed using real-time PCR. Friedelin potentially inhibit 78% of MCF-7 cell's growth, the IC50 value was 1.8μM in 24h and 1.2μM in 48h. Friedelin increased ROS significantly and DNA damage was confirmed by tunel assay. We found characteristically 52% apoptotic cells and 6% necrotic cells in PI, AO/ErBr staining after 48h treatment with 1...
June 12, 2017: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/28617917/genomic-profiling-of-small-bowel-adenocarcinoma
#5
Alexa B Schrock, Craig E Devoe, Robert McWilliams, James Sun, Thomas Aparicio, Philip J Stephens, Jeffrey S Ross, Richard Wilson, Vincent A Miller, Siraj M Ali, Michael J Overman
Importance: Small-bowel adenocarcinomas (SBAs) are rare cancers with a significantly lower incidence, later stage at diagnosis, and worse overall survival than other intestinal-derived cancers. To date, comprehensive genomic analysis of SBA is lacking. Objective: To perform in-depth genomic characterization of a large series of SBAs and other gastrointestinal tumors to draw comparisons and identify potentially clinically actionable alterations. Design, Setting, and Participants: Prospective analysis was performed of clinical samples from patients with SBA (n = 317), colorectal cancer (n = 6353), and gastric carcinoma (n = 889) collected between August 24, 2012, and February 3, 2016, using hybrid-capture-based genomic profiling, at the request of the individual treating physicians in the course of clinical care for the purpose of making therapy decisions...
June 15, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28607931/genetic-epidemiology-of-type-2-diabetes-in-mexican-mestizos
#6
REVIEW
Eiralí Guadalupe García-Chapa, Evelia Leal-Ugarte, Valeria Peralta-Leal, Jorge Durán-González, Juan Pablo Meza-Espinoza
There are currently about 415 million people with diabetes worldwide, a figure likely to increase to 642 million by 2040. In 2015, Mexico was the second Latin American country and sixth in the world in prevalence of this disorder with nearly 11.5 million of patients. Type 2 diabetes (T2D) is the main kind of diabetes and its etiology is complex with environmental and genetic factors involved. Indeed, polymorphisms in several genes have been associated with this disease worldwide. To estimate the genetic epidemiology of T2D in Mexican mestizos a systematic bibliographic search of published articles through PubMed, Scopus, Google Scholar, and Web of Science was conducted...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28600574/promoter-hypermethylation-inactivates-cdkn2a-cdkn2b-and-rassf1a-genes-in-sporadic-parathyroid-adenomas
#7
Ashutosh Kumar Arya, Sanjay Kumar Bhadada, Priyanka Singh, Naresh Sachdeva, Uma Nahar Saikia, Divya Dahiya, Arunanshu Behera, Anil Bhansali, Sudhaker D Rao
Cyclin D1, a G1-S phase regulator, is upregulated in parathyroid adenomas. Since cyclin-dependent kinase (CDK) inhibitors, CDKN2A and CDKN2B, and RASSF1A (Ras-association domain family 1, isoform A) are involved in G1-S phase arrest and act as potential tumor suppressor genes, we aimed to study potential methylation-mediated inactivation of these genes in parathyroid adenomas. Gene expressions of cyclin D1 (CCND1) and regulatory molecules (CDKN2A, CDKN2B and RASSF1A) was analysed in parathyroid adenoma tissues (n = 30)...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28597080/intratumoral-fusobacterium-nucleatum-abundance-correlates-with-macrophage-infiltration-and-cdkn2a-methylation-in-microsatellite-unstable-colorectal-carcinoma
#8
Hye Eun Park, Jung Ho Kim, Nam-Yun Cho, Hye Seung Lee, Gyeong Hoon Kang
Fusobacterium nucleatum (Fn), a specific species of gut microbiota, has been suggested to be enriched in the microsatellite instability-high (MSI-H) molecular subtype of colorectal carcinomas (CRCs). However, the clinicopathologic and molecular factors that interact with Fn in MSI-H CRCs are poorly understood. In this study, 16S ribosomal RNA gene DNA sequence of Fn was quantitatively measured by real-time polymerase chain reaction in tumor DNA samples from a total of 160 surgically resected MSI-H CRC tissues...
June 8, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28597078/spectrum-of-genetic-mutations-in-de-novo-punlmp-of-the-urinary-bladder
#9
Maria Del Carmen Rodriguez Pena, Aline C Tregnago, Marie-Lisa Eich, Simeon Springer, Yuxuan Wang, Diana Taheri, Dilek Ertoy, Kazutoshi Fujita, Stephania M Bezerra, Isabela W Cunha, Maria Rosaria Raspollini, Lijia Yu, Trinity J Bivalacqua, Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein, George J Netto
Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60-80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study...
June 8, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28596968/piper-betle-l-modulates-senescence-associated-genes-expression-in-replicative-senescent-human-diploid-fibroblasts
#10
Lina Wati Durani, Shy Cian Khor, Jen Kit Tan, Kien Hui Chua, Yasmin Anum Mohd Yusof, Suzana Makpol
Piper betle (PB) is a traditional medicine that is widely used to treat different diseases around Asian region. The leaf extracts contain various bioactive compounds, which were reported to have antidiabetic, antibacterial, anti-inflammatory, antioxidant, and anticancer effects. In this study, the effect of PB aqueous extracts on replicative senescent human diploid fibroblasts (HDFs) was investigated by determining the expressions of senescence-associated genes using quantitative PCR. Our results showed that PB extracts at 0...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28593993/myc-activation-cooperates-with-vhl-and-ink4a-arf-loss-to-induce-clear-cell-renal-cell-carcinoma
#11
Sean T Bailey, Aleisha M Smith, Jordan Kardos, Sara E Wobker, Harper L Wilson, Bhavani Krishnan, Ryoichi Saito, Hyo Jin Lee, Jing Zhang, Samuel C Eaton, Lindsay A Williams, Ujjawal Manocha, Dorien J Peters, Xinchao Pan, Thomas J Carroll, Dean W Felsher, Vonn Walter, Qing Zhang, Joel S Parker, Jen Jen Yeh, Richard A Moffitt, Janet Y Leung, William Y Kim
Renal carcinoma is a common and aggressive malignancy whose histopathogenesis is incompletely understood and that is largely resistant to cytotoxic chemotherapy. We present two mouse models of kidney cancer that recapitulate the genomic alterations found in human papillary (pRCC) and clear cell RCC (ccRCC), the most common RCC subtypes. MYC activation results in highly penetrant pRCC tumours (MYC), while MYC activation, when combined with Vhl and Cdkn2a (Ink4a/Arf) deletion (VIM), produce kidney tumours that approximate human ccRCC...
June 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28592523/germline-cdkn2a-p16ink4a-mutations-contribute-to-genetic-determinism-of-sarcoma
#12
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/28592388/characterization-of-clinical-cases-of-advanced-papillary-renal-cell-carcinoma-via-comprehensive-genomic-profiling
#13
Sumanta K Pal, Siraj M Ali, Evgeny Yakirevich, Daniel M Geynisman, Jose A Karam, Julia A Elvin, Garrett M Frampton, Xuan Huang, Douglas I Lin, Mark Rosenzweig, Doron Lipson, Philip J Stephens, Jeffrey S Ross, Vincent A Miller, Neeraj Agarwal, Brian Shuch, Toni K Choueiri, Jon H Chung
BACKGROUND: Papillary renal cell carcinoma (PRCC) is a rare subset of RCC. The Cancer Genome Atlas (TCGA) data largely reflect localized disease, and there are limited data for advanced PRCC. OBJECTIVE: To characterize the frequency of genomic alterations (GAs) in patients with advanced PRCC for whom comprehensive genomic profiling (CGP) was performed in the context of routine clinical care. DESIGN, SETTING, AND PARTICIPANTS: Formalin-fixed, paraffin-embedded tissue was obtained for 169 consecutive patients with confirmed PRCC...
May 30, 2017: European Urology
https://www.readbyqxmd.com/read/28581676/comprehensive-genomic-profiling-of-different-subtypes-of-nasopharyngeal-carcinoma-reveals-similarities-and-differences-to-guide-targeted-therapy
#14
Siraj M Ali, Ming Yao, Jicheng Yao, Jing Wang, Yuwei Cheng, Alexa B Schrock, Gung-Wei Chirn, Hui Chen, Shuo Mu, Laurie Gay, Julia A Elvin, James Suh, Vincent A Miller, Philip J Stephens, Jeffrey S Ross, Kai Wang
BACKGROUND: To date, no targeted therapy has been approved for nasopharyngeal carcinoma (NPC), and this underscores the need for an in-depth understanding of clinically relevant genomic alterations (CRGAs). METHODS: Comprehensive genomic profiling was performed for 190 NPC patients, including 20 patients with nasopharyngeal adenocarcinoma (NPAC), 62 patients with nasopharyngeal squamous cell carcinoma (NPSCC), and 108 patients with nasopharyngeal undifferentiated carcinoma (NPUC)...
June 5, 2017: Cancer
https://www.readbyqxmd.com/read/28580277/expression-and-functional-assessment-of-candidate-type-2-diabetes-susceptibility-genes-identify-four-new-genes-contributing-to-human-insulin-secretion
#15
Fatou K Ndiaye, Ana Ortalli, Mickaël Canouil, Marlène Huyvaert, Clara Salazar-Cardozo, Cécile Lecoeur, Marie Verbanck, Valérie Pawlowski, Raphaël Boutry, Emmanuelle Durand, Iandry Rabearivelo, Olivier Sand, Lorella Marselli, Julie Kerr-Conte, Vikash Chandra, Raphaël Scharfmann, Odile Poulain-Godefroy, Piero Marchetti, François Pattou, Amar Abderrahmani, Philippe Froguel, Amélie Bonnefond
OBJECTIVES: Genome-wide association studies (GWAS) have identified >100 loci independently contributing to type 2 diabetes (T2D) risk. However, translational implications for precision medicine and for the development of novel treatments have been disappointing, due to poor knowledge of how these loci impact T2D pathophysiology. Here, we aimed to measure the expression of genes located nearby T2D associated signals and to assess their effect on insulin secretion from pancreatic beta cells...
June 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/28577549/whole-exome-sequencing-of-an-asbestos-induced-wild-type-murine-model-of-malignant-mesothelioma
#16
Sophie Sneddon, Ann-Marie Patch, Ian M Dick, Stephen Kazakoff, John V Pearson, Nicola Waddell, Richard J N Allcock, Robert A Holt, Bruce W S Robinson, Jenette Creaney
BACKGROUND: Malignant mesothelioma (MM) is an aggressive cancer of the pleural and peritoneal cavities caused by exposure to asbestos. Asbestos-induced mesotheliomas in wild-type mice have been used extensively as a preclinical model because they are phenotypically identical to their human counterpart. However, it is not known if the genetic lesions in these mice tumours are similar to in the human disease, a prerequisite for any new preclinical studies that target genetic abnormalities...
June 2, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28577303/hhex-regulates-hematopoietic-stem-cell-self-renewal-and-stress-hematopoiesis-via-repression-of-cdkn2a
#17
Jacob T Jackson, Benjamin J Shields, Wei Shi, Ladina Di Rago, Donald Metcalf, Nicos A Nicola, Matthew P McCormack
The Hematopoietically-expressed homeobox transcription factor (Hhex) is important for the maturation of definitive hematopoietic progenitors and B-cells during development. We have recently shown that in adult hematopoiesis, Hhex is dispensable for maintenance of hematopoietic stem cells (HSCs) and myeloid lineages but essential for the commitment of Common Lymphoid Progenitors (CLPs) to lymphoid lineages. Here we show that during serial bone marrow transplantation, Hhex-deleted HSCs are progressively lost, revealing an intrinsic defect in HSC self-renewal...
June 2, 2017: Stem Cells
https://www.readbyqxmd.com/read/28561650/higher-level-pathway-objectives-of-epigenetic-therapy-a-solution-to-the-p53-problem-in-cancer
#18
Vamsidhar Velcheti, Tomas Radivoyevitch, Yogen Saunthararajah
Searches for effective yet nontoxic oncotherapies are searches for exploitable differences between cancer and normal cells. In its core of cell division, cancer resembles normal life, coordinated by the master transcription factor MYC. Outside of this core, apoptosis and differentiation programs, which dominantly antagonize MYC to terminate cell division, necessarily differ between cancer and normal cells, as apoptosis is suppressed by biallelic inactivation of the master regulator of apoptosis, p53, or its cofactor p16/CDKN2A in approximately 80% of cancers...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28559012/establishment-and-characterization-of-an-oral-tongue-squamous-cell-carcinoma-cell-line-from-a-never-smoking-patient
#19
Steven J Wang, Saurabh Asthana, Annemieke van Zante, Chase M Heaton, Janyaporn Phuchareon, Leighton Stein, Saito Higuchi, Tomoya Kishimoto, Charles Y Chiu, Adam B Olshen, Frank McCormick, Osamu Tetsu
OBJECTIVE: The rising incidence of oral tongue squamous cell carcinoma (OTSCC) in patients who have never smoked and the paucity of knowledge of its biological behavior prompted us to develop a new cell line originating from a never-smoker. MATERIALS AND METHODS: Fresh tumor tissue of keratinizing OTSCC was collected from a 44-year-old woman who had never smoked. Serum-free media with a low calcium concentration were used in cell culture, and a multifaceted approach was taken to verify and characterize the cell line, designated UCSF-OT-1109...
June 2017: Oral Oncology
https://www.readbyqxmd.com/read/28551330/histopathologic-evaluation-of-atypical-neurofibromatous-tumors-and-their-transformation-into-malignant-peripheral-nerve-sheath-tumor-in-neurofibromatosis-1-patients-a-consensus-overview
#20
Markku M Miettinen, Cristina R Antonescu, Christopher D M Fletcher, Aerang Kim, Alexander J Lazar, Martha M Quezado, Karlyne M Reilly, Anat Stemmer-Rachamimov, Douglas R Stewart, David Viskochil, Brigitte Widemann, Arie Perry
Neurofibromatosis 1 (NF1) patients develop multiple neurofibromas, with 8-15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during their lifetime. Prediction of transformation, typically from plexiform neurofibroma, is clinically and histologically challenging. In this overview, following a consensus meeting in October 2016, we outline the histopathologic features and molecular mechanisms involved in the malignant trans-formation of neurofibromas. Nuclear atypia alone is generally insignificant...
May 24, 2017: Human Pathology
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