keyword
MENU ▼
Read by QxMD icon Read
search

Cdkn2a

keyword
https://www.readbyqxmd.com/read/28717660/a-novel-molecular-diagnostics-platform-for-somatic-and-germline-precision-oncology
#1
Rubén Cabanillas, Marta Diñeiro, David Castillo, Patricia C Pruneda, Cristina Penas, Guadalupe A Cifuentes, Álvaro de Vicente, Noelia S Durán, Rebeca Álvarez, Gonzalo R Ordóñez, Juan Cadiñanos
BACKGROUND: Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have developed a novel NGS diagnostic platform aimed at detecting (1) somatic genomic alterations associated with the response to approved targeted cancer therapies and (2) germline mutations predisposing to hereditary malignancies...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716248/interleukin-6-il-6-rs1800796-and-cyclin-dependent-kinase-inhibitor-cdkn2a-cdkn2b-rs2383207-are-associated-with-ischemic-stroke-in-indigenous-west-african-men
#2
Rufus Akinyemi, Donna K Arnett, Hemant K Tiwari, Bruce Ovbiagele, Fred Sarfo, Vinodh Srinivasasainagendra, Marguerite Ryan Irvin, Abiodun Adeoye, Rodney T Perry, Albert Akpalu, Carolyn Jenkins, Lukman Owolabi, Reginald Obiako, Kolawole Wahab, Emmanuel Sanya, Morenikeji Komolafe, Michael Fawale, Philip Adebayo, Godwin Osaigbovo, Taofiki Sunmonu, Paul Olowoyo, Innocent Chukwuonye, Yahaya Obiabo, Onoja Akpa, Sylvia Melikam, Raelle Saulson, Raj Kalaria, Adesola Ogunniyi, Mayowa Owolabi
BACKGROUND: Inherited genetic variations offer a possible explanation for the observed peculiarities of stroke in sub - Saharan African populations. Interleukin-6 polymorphisms have been previously associated with ischemic stroke in some non-African populations. AIM: Herein we investigated, for the first time, the association of genetic polymorphisms of IL-6, CDKN2A- CDKN2B and other genes with ischemic stroke among indigenous West African participants in the Stroke Investigative Research and Education Network (SIREN) Study...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28716088/loss-of-dip2c-in-rko-cells-stimulates-changes-in-dna-methylation-and-epithelial-mesenchymal-transition
#3
Chatarina Larsson, Muhammad Akhtar Ali, Tatjana Pandzic, Anders M Lindroth, Liqun He, Tobias Sjöblom
BACKGROUND: The disco-interacting protein 2 homolog C (DIP2C) gene is an uncharacterized gene found mutated in a subset of breast and lung cancers. To understand the role of DIP2C in tumour development we studied the gene in human cancer cells. METHODS: We engineered human DIP2C knockout cells by genome editing in cancer cells. The growth properties of the engineered cells were characterised and transcriptome and methylation analyses were carried out to identify pathways deregulated by inactivation of DIP2C...
July 17, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28714959/o-glcnacylation-modulates-bmi-1-protein-stability-and-potential-oncogenic-function-in-prostate-cancer
#4
Y Li, L Wang, J Liu, P Zhang, M An, C Han, Y Li, X Guan, K Zhang
The Polycomb group transcriptional repressor Bmi-1 often overexpressed and participated in stem cells self-renewal and tumorigenesis initiating of prostate cancer. In this progression, Bmi-1 protein was regulated by transcription and post-translational modifications (PTMs). Nobly, the underlying PTMs regulation of Bmi-1 is poorly known. Here we use co-immunoprecipitation show that in C4-2 cell line, Bmi-1 directly interacted with OGT which is the only known enzyme catalyzed the O-GlcNAcylation in human. Furthermore, we identified that Ser255 is the site for Bmi-1 O-GlcNAcylation, and O-GlcNAcylation promoted Bmi-1 protein stability and its oncogenic activity...
July 17, 2017: Oncogene
https://www.readbyqxmd.com/read/28713672/bap1-a-tumor-suppressor-gene-driving-malignant-mesothelioma
#5
REVIEW
Mitchell Cheung, Joseph R Testa
Like cancer generally, malignant mesothelioma (MM) is a genetic disease at the cellular level. DNA copy number analysis of mesothelioma specimens has revealed a number of recurrent sites of chromosomal loss, including 3p21.1, 9p21.3, and 22q12.2. The key inactivated driver genes located at 9p21.1 and 22q12.2 were discovered two decades ago as being the tumor suppressor loci CDKN2A and NF2, respectively. Only relatively recently was the BAP1 gene determined to be the driver gene at 3p21.1 that is somatically inactivated...
June 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28704762/combined-inhibition-of-cdk4-6-and-pi3k-akt-mtor-pathways-induces-a-synergistic-anti-tumor-effect-in-malignant-pleural-mesothelioma-cells
#6
Mara A Bonelli, Graziana Digiacomo, Claudia Fumarola, Roberta Alfieri, Federico Quaini, Angela Falco, Denise Madeddu, Silvia La Monica, Daniele Cretella, Andrea Ravelli, Paola Ulivi, Michela Tebaldi, Daniele Calistri, Angelo Delmonte, Luca Ampollini, Paolo Carbognani, Marcello Tiseo, Andrea Cavazzoni, Pier Giorgio Petronini
Malignant pleural mesothelioma (MPM) is a progressive malignancy associated to the exposure of asbestos fibers. The most frequently inactivated tumor suppressor gene in MPM is CDKN2A/ARF, encoding for the cell cycle inhibitors p16(INK4a) and p14(ARF), deleted in about 70% of MPM cases. Considering the high frequency of alterations of this gene, we tested in MPM cells the efficacy of palbociclib (PD-0332991), a highly selective inhibitor of cyclin-dependent kinase (CDK) 4/6. The analyses were performed on a panel of MPM cell lines and on two primary culture cells from pleural effusion of patients with MPM...
July 10, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28699883/familial-melanoma-astrocytoma-syndrome-synchronous-diffuse-astrocytoma-and-pleomorphic-xanthoastrocytoma-in-a-patient-with-germline-cdkn2a-b-deletion-and-a-significant-family-history
#7
Andrew K Chan, Seunggu J Han, Winward Choy, Daniah Beleford, Manish K Aghi, Mitchel S Berger, Joseph T Shieh, Andrew W Bollen, Arie Perry, Joanna J Phillips, Nicholas Butowski, David A Solomon
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the CDKN2A tumor suppressor gene on chromosome 9p21. While some families with germline CDKN2A mutations are prone to development of just melanomas, other families develop both melanomas, astrocytomas, and occasionally other nervous-system neoplasms including peripheral nerve sheath tumors and meningiomas. The histologic spectrum of the astrocytomas that arise as part of this syndrome is not well described, nor are the additional genetic alterations that drive these astrocytomas apart from the germline CDKN2A inactivation...
July 12, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28698188/a-dab2ip-genotype-sex-interaction-is-associated-with-abdominal-aortic-aneurysm-expansion
#8
Zi Ye, Erin Austin, Daniel J Schaid, Kent R Bailey, Patricia A Pellikka, Iftikhar J Kullo
A faster expansion rate of abdominal aortic aneurysm (AAA) increases the risk of rupture. Women are at higher risk of rupture than men, but the mechanisms underlying this increased risk are unknown. We investigated whether genetic variants that influence susceptibility for AAA (CDKN2A-2B, SORT1, DAB2IP, LRP1 and LDLR) are associated with AAA expansion and whether these associations differ by sex in 650 patients with AAA (mean age 70±8 years, 17% women) enrolled in the Mayo Clinic Vascular Disease Biorepository...
July 11, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/28690875/combination-of-palbociclib-and-radiotherapy-for-glioblastoma
#9
Shane Whittaker, Daniel Madani, Swapna Joshi, Sylvia A Chung, Terrance Johns, Bryan Day, Mustafa Khasraw, Kerrie L McDonald
The cyclin-dependent kinase inhibitor, palbociclib has shown compelling efficacy in breast cancer patients. Several pre-clinical studies of glioblastoma (GBM) have also shown palbociclib to be efficacious. In this study, we investigated palbociclib in combination with radiation therapy (RT) for treating GBM. We tested palbociclib (with and without RT) on four patient-derived cell lines (PDCLs; RB1 retained; CDKN2A loss). We investigated the impact of therapy on the cell cycle and apoptosis using flow cytometry, in vitro...
2017: Cell Death Discovery
https://www.readbyqxmd.com/read/28685160/next-generation-sequencing-of-circulating-tumor-dna-to-predict-recurrence-in-triple-negative-breast-cancer-patients-with-residual-disease-after-neoadjuvant-chemotherapy
#10
Yu-Hsiang Chen, Bradley A Hancock, Jeffrey P Solzak, Dumitru Brinza, Charles Scafe, Kathy D Miller, Milan Radovich
Next-generation sequencing to detect circulating tumor DNA is a minimally invasive method for tumor genotyping and monitoring therapeutic response. The majority of studies have focused on detecting circulating tumor DNA from patients with metastatic disease. Herein, we tested whether circulating tumor DNA could be used as a biomarker to predict relapse in triple-negative breast cancer patients with residual disease after neoadjuvant chemotherapy. In this study, we analyzed samples from 38 early-stage triple-negative breast cancer patients with matched tumor, blood, and plasma...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28681998/eribulin-regresses-a-doxorubicin-resistant-ewing-s-sarcoma-with-a-fus-erg-fusion-and-cdkn2a-deletion-for-the-patient-derived-orthotopic-xenograft-pdox-nude-mouse-model
#11
Kentaro Miyaki, Takashi Murakami, Tasuku Kiyuna, Kentaro Igarashi, Kei Kawaguchi, Yunfeng Li, Arun S Singh, Sarah M Dry, Mark A Eckardt, Yukihiko Hiroshima, Masashi Momiyama, Ryusei Matsuyama, Takashi Chishima, Itaru Endo, Fritz C Eilber, Robert M Hoffman
Ewing's sarcoma is a recalcitrant tumor greatly in need of more effective therapy. The aim of this study was to determine the efficacy of eribulin on a doxorubicin (DOX)-resistant Ewing's sarcoma patient derived orthotopic xenograft (PDOX) model. The Ewing's sarcoma PDOX model was previously established in the right chest wall of nude mice from the patient's right chest wall. In the previous study, the Ewing's sarcoma PDOX was resistant to DOX and sensitive to palbociclib and linsitinib. In the present study, the PDOX models were randomized into 3 groups when the tumor volume reached 60 mm(3) : G1, untreated control (n = 6); G2, DOX treated (n = 6), intraperitoneal (i...
July 6, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28680533/cyclin-dependent-kinase-4-and-6-inhibitors-as-novel-therapeutic-agents-for-targeted-treatment-of-malignant-mesothelioma
#12
Navid Sobhani, Silvia P Corona, Fabrizio Zanconati, Daniele Generali
Malignant Mesothelioma (MM) is a rare and aggressive form of tumour that affects the lining of the internal organs for which current treatments have not been proven to be very effective. P16(INK4A) tumour suppressor encoding CDKN2A gene is often downregulated in MM. This protein is a cyclin dependent kinase 4 and 6 inhibitor, that normally phosphorylates RB1, which has to be un-phosphorylated in order to block cell-cycle at G1 in normal cells. Adding CDK inhibitor molecules to MM in pre-clinical studies has been proven to restore the normal function of p16(INK4A), blocking thereby MM cell cycle at G1...
March 2017: Genes & Cancer
https://www.readbyqxmd.com/read/28680293/molecular-progression-in-unusual-recurrent-non-pediatric-intracranial-clear-cell-meningioma
#13
B Domingo-Arrué, R Gil-Benso, J Megías, L Navarro, T San-Miguel, L Muñoz-Hidalgo, C López-Ginés, M Cerdá-Nicolás
We report a case of a recurrent clear cell meningioma (ccm) in the frontal lobe of the brain of a 67-year-old man. The patient developed three recurrences: at 3, 10, and 12 years after his initial surgery. Histopathology observations revealed a grade 2 ccm with positivity for vimentin and epithelial membrane antigen. Expression of E-cadherin was positive only in the primary tumour and in the first available recurrence. Fluorescence in situ hybridization analyses demonstrated 1p and 14q deletions within the last recurrence...
June 2017: Current Oncology
https://www.readbyqxmd.com/read/28680000/genetic-heterogeneity-of-dlbcl-not-otherwise-specified
#14
Kennosuke Karube
Diffuse large B-cell lymphoma (DLBCL), not otherwise specified, is the most common malignant lymphoma in the world. The recent progress of molecular techniques has proved its heterogeneity. Gene expression profiling for DLBCL, recently achieved using formalin-fixed paraffin-embedded samples, has identified two molecular subtypes, according to their cell of origin correlated with prognosis. Genomic abnormalities are roughly divided into translocations, amplifications/deletions, and mutations. Translocations involving MYC and BCL2 frequently co-occur in 5%-10% of DLBCL and are associated with aggressive clinical behavior with poor outcomes...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28679692/an-unusual-genomic-variant-of-pancreatic-ductal-adenocarcinoma-with-an-indolent-clinical-course
#15
Zachary A Kohutek, Lauren M Rosati, Junguei Hong, Justin Poling, Marc A Attiyeh, Alvin Makohon-Moore, Joseph M Herman, Christine A Iacobuzio-Donahue
We describe an 85-yr-old male of Ashkenazi Jewish descent with biopsy-proven locally advanced pancreatic ductal adenocarcinoma (PDA). The patient underwent a modified course of gemcitabine and stereotactic body radiation therapy and survived for 42 mo with a stable pancreatic head mass and no evidence of metastatic disease before death due to complications from a stroke. Whole-exome sequencing of his tumor revealed a simple genome landscape with no evidence of mutations, copy-number changes, or structural alterations in genes most commonly associated with PDA (i...
July 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28673813/advanced-developmental-toxicity-test-method-based-on-embryoid-body-s-area
#16
Hee Young Kang, Young-Kwon Choi, Na Rae Jo, Jae-Hwan Lee, Changhwan Ahn, Il Young Ahn, Tae Sung Kim, Ki-Suk Kim, Kyung-Chul Choi, Jong Kwon Lee, Sung Duk Lee, Eui-Bae Jeung
Embryonic stem cell test (EST) evaluates the embryotoxic potential of substances and measures the half inhibition in viability of mouse embryonic stem cells (ESCs), fibroblasts (3T3 cells) and in cardiac differentiation of ESC. In this study, we suggest the developmental toxicity test method (termed EBT) applying area of embryoid bodies (EBs) instead of cardiac differentiation of EST. In the assessment of 21 substances, EB area was logarithmically decreased in dose-dependent manner. Decline in EB area resulted in decrease of beating ratio during differentiation of ESCs...
June 30, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28663030/early-experience-with-formalin-fixed-paraffin-embedded-ffpe-based-commercial-clinical-genomic-profiling-of-gliomas-robust-and-informative-with-caveats
#17
Masoud Movassaghi, Maryam Shabihkhani, Seyed A Hojat, Ryan R Williams, Lawrance K Chung, Kyuseok Im, Gregory M Lucey, Bowen Wei, Sergey Mareninov, Michael W Wang, Denise W Ng, Randy S Tashjian, Shino Magaki, Mari Perez-Rosendahl, Isaac Yang, Negar Khanlou, Harry V Vinters, Linda M Liau, Phioanh L Nghiemphu, Albert Lai, Timothy F Cloughesy, William H Yong
BACKGROUND: Commercial targeted genomic profiling with next generation sequencing using formalin-fixed paraffin embedded (FFPE) tissue has recently entered into clinical use for diagnosis and for the guiding of therapy. However, there is limited independent data regarding the accuracy or robustness of commercial genomic profiling in gliomas. METHODS: As part of patient care, FFPE samples of gliomas from 71 patients were submitted for targeted genomic profiling to one commonly used commercial vendor, Foundation Medicine...
June 26, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28652370/small-mitochondrial-arf-smarf-protein-corrects-p53-independent-developmental-defects-of-arf-tumor-suppressor-deficient-mice
#18
Jolieke G van Oosterwijk, Chunliang Li, Xue Yang, Joseph T Opferman, Charles J Sherr
The mouse p19(Arf) (human p14(ARF)) tumor suppressor protein, encoded in part from an alternative reading frame of the Ink4a (Cdkn2a) gene, inhibits the Mdm2 E3 ubiquitin ligase to activate p53. Arf is not expressed in most normal tissues of young mice but is induced by high thresholds of aberrant hyperproliferative signals, thereby activating p53 in incipient tumor cells that have experienced oncogene activation. The single Arf mRNA encodes two distinct polypeptides, including full-length p19(Arf) and N-terminally truncated and unstable p15(smArf) ("small mitochondrial Arf") initiated from an internal in-frame AUG codon specifying methionine-45...
June 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28648937/the-correlation-of-the-standard-5-probe-fish-assay-with-melanocytic-tumors-of-uncertain-malignant-potential
#19
Aaron Muhlbauer, Shabnam Momtahen, Martin C Mihm, James Wang, Cynthia M Magro
BACKGROUND: FISH has recently emerged as a technique to better assess the malignant potential of histologically ambiguous melanocytic lesions. However, the usefulness of FISH has not been conclusively established. The purpose of this study was to further explore the diagnostic value of FISH in distinguishing the borderline melanocytic tumor (BMT) from melanoma. METHOD: 73 cases with BMT were analyzed retrospectively from a dermatopathology database between 2010-2015...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28639227/association-study-between-coronary-artery-disease-and-rs1333049-polymorphism-at-9p21-3-locus-in-italian-population
#20
Piero Pignataro, Lucia Pezone, Giuseppe Di Gioia, Danilo Franco, Guido Iaccarino, Achille Iolascon, Michele Ciccarelli, Mario Capasso
In this study, we verify the association between the rs1333049 single nucleotide polymorphism (9p21.3) within CDKN2A-CDKN2B and coronary artery disease (CAD) in an Italian population. We replicated rs1333049_G allele association with a significantly reduced risk of CAD (OR = 0.816; 95% confidence interval [0.705-0.945]; p = 0.0065) in 711 CAD patients and 755 normal healthy individuals. This effect is maintained even stratifying patients by gender and by risk factors. A significant association was found with age of CAD onset...
June 21, 2017: Journal of Cardiovascular Translational Research
keyword
keyword
36803
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"