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https://www.readbyqxmd.com/read/29449437/dynamic-clonal-progression-in-xenografts-of-acute-lymphoblastic-leukemia-with-intrachromosomal-amplification-of-chromosome-21
#1
Paul B Sinclair, Helen H Blair, Sarra L Ryan, Lars Buechler, Joanna Cheng, Jake Clayton, Rebecca Hanna, Shaun Hollern, Zoe Hawking, Matthew Bashton, Claire J Schwab, Lisa Jones, Lisa J Russell, Helen Marr, Peter Carey, Christina Halsey, Olaf Heidenreich, Anthony V Moorman, Christine J Harrison
Intrachromosomal amplification of chromosome 21 is a heterogeneous chromosomal rearrangement occurring in 2% of childhood precursor B-cell acute lymphoblastic leukemia. There are no cell lines with iAMP21 and these abnormalities are too complex to faithfully engineer in animal models. As a resource for future functional and pre-clinical studies, we have created xenografts from intrachromosomal amplification of chromosome 21 leukemia patient blasts and characterised them by in-vivo and ex-vivo luminescent imaging, FLOW immunophenotyping, and histological and ultrastructural analysis of bone marrow and the central nervous system...
February 15, 2018: Haematologica
https://www.readbyqxmd.com/read/29446543/cyclin-dependent-kinase-inhibitor-2a-b-gene-deletions-are-markers-of-poor-prognosis-in-indian-children-with-acute-lymphoblastic-leukemia
#2
Manisha Agarwal, Sameer Bakhshi, Sadanand N Dwivedi, Madhulika Kabra, Rashmi Shukla, Rachna Seth
BACKGROUND: Cyclin dependent kinase inhibitor 2A/B (CDKN2A/B) genes are implicated in many malignancies including acute lymphoblastic leukemia (ALL). These tumor suppressor genes, with a key regulatory role in cell cycle are located on chromosome 9p21.3. Previous studies involving CDKN2A/B gene deletions have shown mixed associations with survival outcome in childhood ALL. PROCEDURE: Hundred and four newly diagnosed children with ALL (1-14 years) were enrolled in this study...
February 15, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29444910/the-neuroendocrine-phenotype-genomic-profile-and-therapeutic-sensitivity-of-gepnet-cell-lines
#3
Tobias Hofving, Yvonne Arvidsson, Bilal Almobarak, Linda Inge, Roswitha Pfragner, Marta Persson, Göran Stenman, Erik Kristiansson, Viktor Johanson, Ola Nilsson
Experimental models of neuroendocrine tumour disease are scarce, and no comprehensive characterisation of existing gastroenteropancreatic neuroendocrine tumour (GEPNET) cell lines has been reported. In this study, we aimed to define the molecular characteristics and therapeutic sensitivity of these cell lines. We therefore performed immunophenotyping, copy number profiling, whole-exome sequencing and a large-scale inhibitor screening of seven GEPNET cell lines. Four cell lines, GOT1, P-STS, BON-1 and QGP-1, displayed a neuroendocrine phenotype while three others, KRJ-I, L-STS and H-STS, did not...
March 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29432124/cdkn2a-b-t2d-gwas-risk-snps-impact-locus-gene-expression-and-proliferation-in-human-islets
#4
Yahui Kong, Rohit B Sharma, Socheata Ly, Rachel E Stamateris, William M Jesdale, Laura C Alonso
Genome-wide association studies link the CDKN2A/B locus with T2D risk, but mechanisms increasing risk remain unknown. The CDKN2A/B locus encodes cell cycle inhibitors p14, p15, and p16, MTAP, and ANRIL, a lncRNA. The goal of this study was to determine whether CDKN2A/B T2D risk-SNPs impact locus gene expression, insulin secretion, or beta cell proliferation, in human islets. Islets from non-diabetic donors (n=95) were tested for SNP genotype (rs10811661, rs2383208, rs564398, rs10757283), gene expression (p14, p15, p16, MTAP, ANRIL, PCNA, KI67, CCND2), insulin secretion (n=61) and beta cell proliferation (n=47)...
February 6, 2018: Diabetes
https://www.readbyqxmd.com/read/29430168/assessment-of-p16-expression-and-hpv-infection-in-adenoid-cystic-carcinoma-of-the-lacrimal-gland
#5
Yuchuan Wang, Yuan Tian, Jinyong Lin, Luxia Chen, Liming Wang, Peng Hao, Ruifang Han, Ming Ying, Xuan Li, Xin Tang
Purpose: Adenoid cystic carcinoma (ACC) in the lacrimal gland is a rare malignancy. P16 is encoded by the CDKN2A gene, which is recognized as a tumor suppressor due to its inactivation in many types of tumors. However, p16 overexpression is also linked to adverse tumor parameters. These contradictory observations have also been confirmed in ACCs in the salivary glands. Furthermore, evidence of human papilloma virus (HPV) infection is found in a proportion of ACCs in the salivary glands...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29422544/mutational-signatures-and-chromosome-alteration-profiles-of-squamous-cell-carcinomas-of-the-vulva
#6
Mi-Ryung Han, Sun Shin, Hyeon-Chun Park, Min Sung Kim, Sung Hak Lee, Seung Hyun Jung, Sang Yong Song, Sug Hyung Lee, Yeun-Jun Chung
Vulvar squamous cell carcinoma (SCC) consists of two different etiologic categories: human papilloma virus (HPV)-associated (HPV (+)) and HPV-non-associated (HPV (-)). There have been no genome-wide studies on the genetic alterations of vulvar SCCs or on the differences between HPV (+) and HPV (-) vulvar SCCs. In this study, we performed whole-exome sequencing and copy number profiling of 6 HPV (+) and 9 HPV (-) vulvar SCCs and found known mutations (TP53, CDKN2A and HRAS) and copy number alterations (CNAs) (7p and 8q gains and 2q loss) in HPV (-) SCCs...
February 9, 2018: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29420051/loss-of-cdkn2b-promotes-fibrosis-via-increased-fibroblast-differentiation-rather-than-proliferation
#7
Anne M Scruggs, Hailey B Koh, Priya Tripathi, Nicholas J Leeper, Eric S White, Steven K Huang
Idiopathic pulmonary fibrosis (IPF) is a devastating lung disease characterized by excessive scarring and fibroblast activation. We previously showed that fibroblasts from patients with IPF are hypermethylated at the CDKN2B gene locus resulting in decreased CDKN2B expression. Here, we examine how diminished CDKN2B expression in normal and IPF fibroblasts affect fibroblast function and how loss of CDKN2B contributes to IPF pathogenesis. We first confirmed that protein expression of CDKN2B was diminished in IPF lungs in situ...
February 8, 2018: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29416795/treatment-associated-tp53-dna-binding-domain-missense-mutations-in-the-pathogenesis-of-secondary-gliosarcoma
#8
Margaret Pain, Huaien Wang, Eunjee Lee, Maya Strahl, Wissam Hamou, Robert Sebra, Jun Zhu, Raymund L Yong
Background: Gliosarcoma is a rare variant of glioblastoma (GBM) that exhibits frequent mutations in TP53 and can develop in a secondary fashion after chemoradiation of a primary GBM. Whether temozolomide (TMZ)-induced mutagenesis of the TP53 DNA-binding domain (DBD) can drive the pathogenesis of gliosarcoma is unclear. Methods: We identified a case of a primary GBM that rapidly progressed into secondary gliosarcoma shortly after chemoradiation was initiated. Bulk tumor was collected and gliomasphere cultures derived from both the pre- and post-treatment tumors...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29416754/targeted-deep-sequencing-of-circulating-tumor-dna-in-metastatic-pancreatic-cancer
#9
Andreas W Berger, Daniel Schwerdel, Thomas J Ettrich, Alexander Hann, Stefan A Schmidt, Alexander Kleger, Ralf Marienfeld, Thomas Seufferlein
Purpose: Precision medicine in pancreatic ductal adenocarcinoma (PDAC) could be substantially supported by tools that allow to establish and monitor the molecular setup of the tumor. In particular, noninvasive approaches are desirable, but not validated. Characterization of circulating tumor DNA (ctDNA) may help to achieve this goal. Experimental Design: Blood samples from patients with metastatic PDAC prior to and during palliative treatment were collected. ctDNA and corresponding tumor tissue were analyzed by targeted next generation sequencing and droplet digital PCR for the 7 most frequently mutated genes in PDAC (TP53, SMAD4, CDKN2A, KRAS, APC, ATM, and FBXW7)...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29413759/mutational-profiling-of-malignant-mesothelioma-revealed-potential-therapeutic-targets-in-egfr-and-nras
#10
Jeong Eun Kim, Deokhoon Kim, Yong Sang Hong, Kyu-Pyo Kim, Young Kwang Yoon, Dae Ho Lee, Sang-We Kim, Sung-Min Chun, Se Jin Jang, Tae Won Kim
Pemetrexed and platinum (PP) combination chemotherapy is the current standard first-line therapy for treatment of malignant mesothelioma (MM). However, a useful predictive biomarker for PP therapy is yet to be found. Here, we performed targeted exome sequencing to profile somatic mutations and copy number variations in 12 MM patients treated with PP therapy. We identified 187 somatic mutations in 12 patients (65 synonymous, 102 missense, 2 nonsense, 5 splice site, and 13 small coding insertions/deletions). We identified somatic mutations in 23 genes including BAP1, TP53, NRAS, and EGFR...
January 29, 2018: Translational Oncology
https://www.readbyqxmd.com/read/29409485/unearthing-new-genomic-markers-of-drug-response-by-improved-measurement-of-discriminative-power
#11
Cuong C Dang, Antonio Peón, Pedro J Ballester
BACKGROUND: Oncology drugs are only effective in a small proportion of cancer patients. Our current ability to identify these responsive patients before treatment is still poor in most cases. Thus, there is a pressing need to discover response markers for marketed and research oncology drugs. Screening these drugs against a large panel of cancer cell lines has led to the discovery of new genomic markers of in vitro drug response. However, while the identification of such markers among thousands of candidate drug-gene associations in the data is error-prone, an appraisal of the effectiveness of such detection task is currently lacking...
February 6, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29408205/risks-of-melanoma-and-other-cancers-in-melanoma-prone-families-over-four-decades
#12
Margaret A Tucker, David E Elder, Michael Curry, Mary C Fraser, Virginia Pichler, Deborah Zametkin, Xiaohong R Yang, Alisa M Goldstein
Since 1976, melanoma-prone families have been followed at the National Cancer Institute to identify etiologic factors for melanoma. We assessed risks of melanoma and other cancers in 1226 members of 56 families followed for up to four decades to population rates in the Surveillance, Epidemiology, and End Results (SEER) program. All families were tested for mutations in CDKN2A and CDK4; 29 were mutation positive and 27 mutation negative. We compared rates of invasive melanomas, both first and second, by family mutation status, to SEER...
February 2, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29407587/high-frequency-of-intermediate-and-poor-risk-copy-number-abnormalities-in-pediatric-cohort-of-b-all-correlate-with-high-mrd-post-induction
#13
Minu Singh, Prateek Bhatia, Amita Trehan, Neelam Varma, Manupdesh Singh Sachdeva, Deepak Bansal, Richa Jain, Shano Naseem
Copy number abnormalities (CNAs) and recurrent fusion transcripts are important genetic events which define and prognosticate B-Cell Acute Lymphoblastic Leukemia (B-ALL). We evaluated CNAs and fusion transcripts in 67 pediatric B-ALL cases and correlated the data with standard risk factors and early treatment outcome parameters. Common fusion transcripts ETV6-RUNX1, E2A-PBX, BCR-ABL1 and MLL-AF4 were examined by RT-PCR and noted in 15%, 15%, 13% and 1.4% of all cases respectively. CNAs in IKZF1, PAX5, EBF1, BTG1, RB1, CDKN2A/B and genes from PAR1 region viz...
February 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29405243/characteristics-of-familial-melanoma-in-valencia-spain-based-on-the-presence-of-cdkn2a-mutations-and-mc1r-variants
#14
Claudia Huertas, Zaida Garcia-Casado, José Bañuls, Manuel Moragon, Vicente Oliver, Blanca Unamuno, Celia Requena, Rajiv Kumar, Eduardo Nagore
Melanoma results from a complex interplay between environmental factors and individual genetic susceptibility. Familial melanoma is attributable to predisposition genes with variable penetrance. The aim of this study was to identify differences between familial melanoma and sporadic cases in our population, based on the presence of CDKN2A mutations and MC1R variants. Comparing 107 patients with familial melanoma from 87 families (17% CDKN2A mutated) with 1,390 cases of sporadic melanomas, the former were younger and exhibited an increased prevalence of atypical naevi and squamous cell carcinoma (SCC)...
February 6, 2018: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29388151/p16-promotes-the-growth-and-mobility-potential-of-breast-cancer-both-in-vitro-and-in-vivo-the-key-role-of-the-activation-of-il-6-jak2-stat3-signaling
#15
Le Wang, Xiangwen Zhan, Xiaomeng Shen, Mingzhe Li, Jianming Yang, Wenhua Yu, Hao Chen, Bo Jin, Zebin Mao
P16 is the product of cyclin-dependent kinase 2 (CDKN2A) gene and plays multi-pronged roles in the cancer progression. Breast cancer (BC) is the most commonly diagnosed cancer type among females. In the current study, the potential function of P16 in the growth and metastasis of BC was investigated. Firstly, the expression statuses of P16 in different cancer types were investigated using Oncomine database and validated with corresponding cancer cell lines. Afterwards, the expression of P16 was knocked down in BC cell line BT-549 and the effect on the cell proliferation, sensitivity to paclitaxel (TAX), apoptosis, migration, and invasion abilities was assessed using CCK-8, Edu, flow cytometry, scratch, and transwell assays, respectively...
January 31, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29388014/the-landscape-of-genetic-alterations-in-ameloblastomas-relates-to-clinical-features
#16
Sibel Elif Gültekin, Reem Aziz, Carina Heydt, Burcu Sengüven, Joachim Zöller, Ali Farid Safi, Matthias Kreppel, Reinhard Buettner
Ameloblastoma is a mostly benign, but locally invasive odontogenic tumor eliciting frequent relapses and significant morbidity. Recently, mutually exclusive mutations in BRAF and SMO were identified causing constitutive activation of MAPK and hedgehog signaling pathways. To explore further such clinically relevant genotype-phenotype correlations, we here comprehensively analyzed a large series of ameloblastomas (98 paraffin block of 76 patients) with respect to genomic alterations, clinical presentation, and histological features collected from the archives of three different pathology centers in France, Germany, and Turkey...
February 1, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29385581/genetic-test-reporting-of-cdkn2a-provides-informational-and-motivational-benefits-for-managing-melanoma-risk
#17
Lisa G Aspinwall, Tammy K Stump, Jennifer M Taber, Danielle M Drummond, Wendy Kohlmann, Marjan Champine, Sancy A Leachman
A CDKN2A/p16 mutation confers 28%-67% lifetime melanoma risk, a risk that may be moderated by ultraviolet radiation exposure. The aim of this study was to test whether melanoma genetic counseling and test disclosure conferred unique informational, motivational, or emotional benefits compared to family history-based counseling. Participants included were 114 unaffected members of melanoma-prone families, ages 16-69, 51.8% men, 65.8% with minor children or grandchildren. Carriers (n = 28) and noncarriers (n = 41) from families with a CDKN2A mutation were compared to no-test controls (n = 45) from melanoma-prone families without an identifiable CDKN2A mutation...
January 29, 2018: Translational Behavioral Medicine
https://www.readbyqxmd.com/read/29382514/-epigenetic-alterations-in-acute-lymphoblastic-leukemia
#18
REVIEW
María Del Pilar Navarrete-Meneses, Patricia Pérez-Vera
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. It is well-known that genetic alterations constitute the basis for the etiology of ALL. However, genetic abnormalities are not enough for the complete development of the disease, and additional alterations such as epigenetic modifications are required. Such alterations, like DNA methylation, histone modifications, and noncoding RNA regulation have been identified in ALL. DNA hypermethylation in promoter regions is one of the most frequent epigenetic modifications observed in ALL...
July 2017: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29379165/muc1-c-activates-polycomb-repressive-complexes-and-downregulates-tumor-suppressor-genes-in-human-cancer-cells
#19
REVIEW
Hasan Rajabi, Masayuki Hiraki, Donald Kufe
The PRC2 and PRC1 complexes are aberrantly expressed in human cancers and have been linked to decreases in patient survival. MUC1-C is an oncoprotein that is also overexpressed in diverse human cancers and is associated with a poor prognosis. Recent studies have supported a previously unreported function for MUC1-C in activating PRC2 and PRC1 in cancer cells. In the regulation of PRC2, MUC1-C (i) drives transcription of the EZH2 gene, (ii) binds directly to EZH2, and (iii) enhances occupancy of EZH2 on target gene promoters with an increase in H3K27 trimethylation...
January 30, 2018: Oncogene
https://www.readbyqxmd.com/read/29377909/genomic-analysis-of-head-and-neck-cancer-cases-from-two-high-incidence-regions
#20
Sandra Perdomo, Devasena Anantharaman, Matthieu Foll, Behnoush Abedi-Ardekani, Geoffroy Durand, Luciana Albina Reis Rosa, Reetta Holmila, Florence Le Calvez-Kelm, Eloiza H Tajara, Victor Wünsch-Filho, José Eduardo Levi, Marta Vilensky, Jerry Polesel, Ivana Holcatova, Lorenzo Simonato, Cristina Canova, Pagona Lagiou, James D McKay, Paul Brennan
We investigated how somatic changes in HNSCC interact with environmental and host risk factors and whether they influence the risk of HNSCC occurrence and outcome. 180-paired samples diagnosed as HNSCC in two high incidence regions of Europe and South America underwent targeted sequencing (14 genes) and evaluation of copy number alterations (SCNAs). TP53, PIK3CA, NOTCH1, TP63 and CDKN2A were the most frequently mutated genes. Cases were characterized by a low copy number burden with recurrent focal amplification in 11q13...
2018: PloS One
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