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P53 mutation

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https://www.readbyqxmd.com/read/28110298/idh1-mutation-in-diffuse-gliomas-in-persons-age-55-years-and-over
#1
Chase Robinson, B K Kleinschmidt-DeMasters
Diffuse astrocytoma (DA), anaplastic astrocytoma (AA), and glioblastoma (GBM) are defined by the World Health Organization (WHO) based on IDH-mutational status. The vast majority of IDH-mutated gliomas (90% of which involve a mutation in IDH1 R132H, which can be assessed by IDH1 immunohistochemistry [IHC]) occur in persons younger than 55 years of age. This raises the question as to the prevalence of IDH-mutant tumors in older persons and whether the gliomas in older patients should be routinely tested. Since January 1, 2014, we have employed a standard screening panel for all gliomas regardless of patient age...
January 21, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28108518/a-transposon-based-analysis-reveals-rasa1-is-involved-in-triple-negative-breast-cancer
#2
Cristian Suárez-Cabrera, Rita M Quintana, Ana Bravo, M LLanos Casanova, Angustias Page, Josefa P Alameda, Jesus M Paramio, Alicia Maroto, Javier Salamanca, Adam J Dupuy, Angel Ramírez, Manuel Navarro
RAS genes are mutated in 20% of human tumors, but these mutations are very rare in breast cancer. Here we used a mouse model to generate tumors upon activation of a mutagenic T2Onc2 transposon via expression of a transposase driven by the keratin K5 promoter in a p53+/- background. These animals mainly developed mammary tumors, most of which had transposon insertions in one of two RASGAP genes, neurofibromin1 (NF1) and RAS p21 protein activator (Rasa1). Immunohistochemical analysis of a collection of human breast tumors confirmed that low expression of RASA1 is frequent in basal (triple-negative) and ER-negative tumors...
January 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28106538/a-polymorphism-in-mir-34b-c-as-a-potential-biomarker-for-early-onset-of-hereditary-retinoblastoma
#3
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/28106106/serous-tubal-intraepithelial-neoplasia-the-concept-and-its-application
#4
REVIEW
Emily E K Meserve, Jan Brouwer, Christopher P Crum
In recent years it has become clear that many extra-uterine (pelvic) high-grade serous carcinomas (serous carcinomas) are preceded by a precursor lesion in the distal fallopian tube. Precursors range from small self-limited 'p53 signatures' to expansile serous tubal intraepithelial neoplasms that include both serous tubal epithelial proliferations (or lesions) of uncertain significance and serous tubal intraepithelial carcinomas. These precursors can be considered from three perspectives. The first is biologic underpinnings, which are multifactorial, and include the intersection of DNA damage with Tp53 mutations and disturbances in transcriptional regulation that increase with age...
January 20, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28105149/t-14-18-q32-q21-in-chronic-lymphocytic-leukemia-patients-report-of-two-cases-and-a-literature-review
#5
Weifeng Chen, Yi Miao, Rong Wang, Yujie Wu, Hairong Qiu, Wei Xu, Jianyong Li, Lei Fan, Xin Xu
The chromosomal abnormality t(14;18)(q32;q21) is most commonly associated with germinal center-derived B-cell lymphomas, particularly follicular lymphoma (FL). Generally, it is considered a hallmark of FL. The t(14;18)(q32;q21) translocation is rare in chronic lymphocytic leukemia (CLL) and its prognostic significance remains unclear. In the present study, two cases of CLL with t(14;18)(q32;q21) were diagnosed using conventional cytogenetic analysis and fluorescence in situ hybridization. Both patients presented with leukemia and the morphological features and immunophenotypes were typical of CLL...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28103504/l-arginine-alters-the-effect-of-5-fluorouracil-on-breast-cancer-cells-in-favor-of-apoptosis
#6
Mozhgan Jahani, Mehri Azadbakht, Fatemeh Norooznezhad, Kamran Mansouri
Chemoresistance in breast cancer is a major obstacle, especially in p53 mutation types. The aim of this study was to evaluate if a combination therapy of l-arginine with 5-fluorouracil (5-FU) can alter the effect of this chemotherapy drug on breast cancer cells. The study was performed on BT-20 and MCF-7 cell lines. The effects of l-arginine alone and in combination with 5-FU were investigated on cell viability, apoptosis and nitric oxide (NO) production. Drugs effects on the cellular energetic metabolism were investigated through the lactate production and glucose-6-phosphate dehydrogenase (G6PD) activity assay...
January 16, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28102842/zika-virus-elicits-p53-activation-and-genotoxic-stress-in-human-neural-progenitors-similar-to-mutations-involved-in-severe-forms-of-genetic-microcephaly-and-p53
#7
Vincent El Ghouzzi, Federico T Bianchi, Ivan Molineris, Bryan C Mounce, Gaia E Berto, Malgorzata Rak, Sophie Lebon, Laetitia Aubry, Chiara Tocco, Marta Gai, Alessandra Ma Chiotto, Francesco Sgrò, Gianmarco Pallavicini, Etienne Simon-Loriere, Sandrine Passemard, Marco Vignuzzi, Pierre Gressens, Ferdinando Di Cunto
No abstract text is available yet for this article.
January 19, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28102324/antiproliferative-and-apoptosis-inducing-effect-of-exo-protoporphyrin-ix-based-sonodynamic-therapy-on-human-oral-squamous-cell-carcinoma
#8
Yanhong Lv, Jinhua Zheng, Qi Zhou, Limin Jia, Chunying Wang, Nian Liu, Hong Zhao, Hang Ji, Baoxin Li, Wenwu Cao
Sonodynamic therapy (SDT) is an innovative modality for cancer treatment. But the biological effect of SDT on oral squamous cell carcinoma has not been studied. Our previous study has shown that endo-Protoporphyrin IX based SDT (ALA-SDT) could induce apoptosis in human tongue squamous carcinoma SAS cells through mitochondrial pathway. Herein, we investigated the effect of exo- Protoporphyrin based SDT (PpIX-SDT) on SAS cells in vitro and in vivo. We demonstrated that PpIX-SDT increased the ratio of cells in the G2/M phase and induced 3-4 times more cell apoptosis compared to sonocation alone...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102315/methyl-cytosine-driven-structural-changes-enhance-adduction-kinetics-of-an-exon-7-fragment-of-the-p53-gene
#9
Spundana Malla, Karteek Kadimisetty, You-Jun Fu, Dharamainder Choudhary, John B Schenkman, James F Rusling
Methylation of cytosine (C) at C-phosphate-guanine (CpG) sites enhances reactivity of DNA towards electrophiles. Mutations at CpG sites on the p53 tumor suppressor gene that can result from these adductions are in turn correlated with specific cancers. Here we describe the first restriction-enzyme-assisted LC-MS/MS sequencing study of the influence of methyl cytosines (MeC) on kinetics of p53 gene adduction by model metabolite benzo[a]pyrene-7,8-dihydrodiol-9,10-epoxide (BPDE), using methodology applicable to correlate gene damage sites for drug and pollutant metabolites with mutation sites...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097652/mdm4-is-a-rational-target-for-treating-breast-cancers-with-mutant-p53
#10
Panimaya Jeffreena Miranda, Daniel Buckley, Dinesh Raghu, Jia-Min B Pang, Elena A Takano, Reshma Vijayakumaran, Amina F A S Teunisse, Atara Posner, Tahlia Procter, Marco J Herold, Cristina Gamell, Jean-Christophe Marine, Stephen B Fox, Aart Jochemsen, Sue Haupt, Ygal Haupt
Mutation of the key tumour suppressor p53 defines a transition in the progression toward aggressive and metastatic breast cancer (BC) with the poorest outcome. Specifically, p53 mutation frequency exceeds 50% in Triple Negative BC (TNBC). Key regulators of mutant p53 that facilitate its oncogenic functions are potential therapeutic targets. We report here that the MDM4 protein is frequently abundant in the context of mutant p53 in basal-like BC samples. Importantly, we show that MDM4 plays a critical role in the proliferation of these BC cells...
January 18, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28096517/the-nucleoside-analog-clitocine-is-a-potent-and-efficacious-readthrough-agent
#11
Westley J Friesen, Christopher R Trotta, Yuki Tomizawa, Jin Zhuo, Briana Johnson, Jairo Sierra, Bijoyita Roy, Marla Weetall, Jean Hedrick, Josephine Sheedy, James Takasugi, Young-Choon Moon, Suresh Babu, Ramil Baiazitov, John D Leszyk, Thomas W Davis, Stuart W Peltz, Ellen M Welch
Nonsense mutations resulting in a premature stop codon in an open reading frame occur in critical tumor suppressor genes in a large number of the most common forms of cancers and are known to cause or contribute to the progression of disease. Low molecular weight compounds that induce readthrough of nonsense mutations offer a new means of treating patients with genetic disorders or cancers resulting from nonsense mutations. We have identified the nucleoside analog clitocine as a potent and efficacious suppressor of nonsense mutations...
January 17, 2017: RNA
https://www.readbyqxmd.com/read/28095038/pure-androgen-producing-adrenal-tumor-clinical-features-and-pathogenesis
#12
Anli Tong, Jun Jiang, Fen Wang, Chunyan Li, Yushi Zhang, Xueyan Wu
OBJECTIVE: Pure androgen-secreting adrenal tumors (PASATs) are extremely rare, most reports involving only a single case. This study examined 9 cases of PASAT, with an attempt to characterize its clinical features and to explore their possible pathogenesis. METHODS: Clinical data of 9 patients with PASAT were retrospectively reviewed. Immunostaining were conducted, and Aryl hydrocarbon receptor-interacting protein (AIP) were amplified and directly sequenced. RESULTS: The onset age of the patients ranged from 3...
January 17, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28093285/the-depletion-of-atm-inhibits-colon-cancer-proliferation-and-migration-via-b56%C3%AE-2-mediated-chk1-p53-cd44-cascades
#13
Rui Liu, Jiajia Tang, Chaodong Ding, Weicheng Liang, Li Zhang, Tianke Chen, Yan Xiong, Xiaowei Dai, Wenfeng Li, Yunsheng Xu, Jin Hu, Liting Lu, Wanqin Liao, Xincheng Lu
Ataxia-telangiectasia mutated (ATM) protein kinase is a major guardian of genomic stability, and its well-established function in cancer is tumor suppression. Here, we report an oncogenic role of ATM. Using two isogenic sets of human colon cancer cell lines that differed only in their ATM status, we demonstrated that ATM deficiency significantly inhibits cancer cell proliferation, migration, and invasion. The tumor-suppressive function of ATM depletion is not modulated by the compensatory activation of ATR, but it is associated with B56γ2-mediated Chk1/p53/CD44 signaling pathways...
January 14, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28093207/p53-mediates-the-suppression-of-cancer-cell-invasion-by-inducing-lima1-eplin
#14
Tomoko Ohashi, Masashi Idogawa, Yasushi Sasaki, Takashi Tokino
The tumor suppressor gene p53 is frequently mutated in human cancer. p53 executes various functions, such as apoptosis induction and cell cycle arrest, by modulating transcriptional regulation. In this study, LIM domain and Actin-binding protein 1 (LIMA1) was identified as a target of the p53 family using a cDNA microarray. We also evaluated genome-wide occupancy of the p53 protein by performing chromatin immunoprecipitation-sequencing (ChIP-seq) and identified two p53 response elements in the LIMA1 gene. LIMA1 protein levels were increased by treatment with nutlin-3a, a small molecule that activates endogenous p53...
January 13, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28081035/removal-of-ribonucleotides-by-p53-protein-incorporated-during-dna-synthesis-by-hiv-1-reverse-transcriptase
#15
Tzofit Akua, Galia Rahav, Yossi Saragani, Amnon Hizi, Mary Bakhanashvili
OBJECTIVE(S): HIV-1 reverse transcriptase frequently incorporates ribonucleotides into the proviral DNA in macrophages, but not in lymphocytes. The enzyme exerts an efficient ribonucleotide-terminated primer extension capacity. Furthermore, ribonucleotide-editing repair is attenuated in macrophages. Tumor suppressor p53 protein, displaying an intrinsic 3'→5' exonuclease activity, was found to be involved in efficient proofreading of base-base mismatches produced during DNA synthesis...
January 28, 2017: AIDS
https://www.readbyqxmd.com/read/28079598/interobserver-agreement-in-endometrial-carcinoma-histotype-diagnosis-varies-depending-on-the-cancer-genome-atlas-tcga-based-molecular-subgroup
#16
Lien N Hoang, Mary A Kinloch, Joyce M Leo, Katherine Grondin, Cheng-Han Lee, Carol Ewanowich, Martin Köbel, Angela Cheng, Aline Talhouk, Melissa McConechy, David G Huntsman, Jessica N McAlpine, Robert A Soslow, C Blake Gilks
The Cancer Genome Atlas recently identified a genomic-based molecular classification of endometrial carcinomas, with 4 molecular categories: (1) ultramutated (polymerase epsilon [POLE] mutated), (2) hypermutated (microsatellite instability), (3) copy number abnormalities-low, and (4) copy number abnormalities-high. Two studies have since proposed models to classify endometrial carcinomas into 4 molecular subgroups, modeled after The Cancer Genome Atlas, using simplified and more clinically applicable surrogate methodologies...
February 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28077648/human-papillomavirus-16-e6-up-regulates-apobec3b-via-the-tead-transcription-factor
#17
Seiichiro Mori, Takamasa Takeuchi, Yoshiyuki Ishii, Takashi Yugawa, Tohru Kiyono, Hiroshi Nishina, Iwao Kukimoto
: The cytidine deaminase APOBEC3B (A3B) underlies the genetic heterogeneity of several human cancers including cervical cancer, which is caused by human papillomavirus (HPV) infection. We previously identified a region within the A3B promoter that is activated by the viral protein HPV16 E6 in human keratinocytes. Here, we discovered three sites recognized by the TEAD family of transcription factors within this region of the A3B promoter. Reporter assays in HEK293 cells showed that exogenously expressed TEAD4 induced A3B promoter activation through binding to these sites...
January 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#18
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28074659/ferulic-acid-fa-abrogates-%C3%AE-radiation-induced-oxidative-stress-and-dna-damage-by-up-regulating-nuclear-translocation-of-nrf2-and-activation-of-nhej-pathway
#19
Ujjal Das, Krishnendu Manna, Amitava Khan, Mahuya Sinha, Sushobhan Biswas, Aaveri Sengupta, Anindita Chakraborty, Sanjit Dey
The present study was aimed to evaluate the radioprotective effect of ferulic acid (FA), a naturally occurring plant flavonoid in terms of DNA damage and damage related alterations of repair pathways by gamma radiation. FA was administered at a dose of 50 mg/kg body weight for five consecutive days prior to exposing the swiss albino mice to a single dose of 10 Gy gamma radiation. Ionising radiation induces oxidative damage manifested by decreased expression of Cu, Zn-SOD (SOD stands for super oxide dismutase), Mn-SOD and catalase...
January 11, 2017: Free Radical Research
https://www.readbyqxmd.com/read/28073896/patient-specific-circulating-tumor-dna-detection-during-neoadjuvant-chemotherapy-in-triple-negative-breast-cancer
#20
Francesca Riva, Francois-Clement Bidard, Alexandre Houy, Adrien Saliou, Jordan Madic, Aurore Rampanou, Caroline Hego, Maud Milder, Paul Cottu, Marie-Paule Sablin, Anne Vincent-Salomon, Olivier Lantz, Marc-Henri Stern, Charlotte Proudhon, Jean-Yves Pierga
BACKGROUND: In nonmetastatic triple-negative breast cancer (TNBC) patients, we investigated whether circulating tumor DNA (ctDNA) detection can reflect the tumor response to neoadjuvant chemotherapy (NCT) and detect minimal residual disease after surgery. METHODS: Ten milliliters of plasma were collected at 4 time points: before NCT; after 1 cycle; before surgery; after surgery. Customized droplet digital PCR (ddPCR) assays were used to track tumor protein p53 (TP53) mutations previously characterized in tumor tissue by massively parallel sequencing...
January 10, 2017: Clinical Chemistry
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