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https://www.readbyqxmd.com/read/28929041/severe-late-toxicity-after-adjuvant-breast-radiotherapy-in-a-patient-with-a-germline-ataxia-telangiectasia-mutated-gene-future-treatment-decisions
#1
Maryam Dosani, Kasmintan A Schrader, Alan Nichol, Sophie Sun, Tamara Shenkier, Zoe Lohn, Gudrun Aubertin, Scott Tyldesley
Ataxia telangiectasia mutated (ATM) gene mutations may confer increased sensitivity to ionizing radiation and increased risk of late toxicity for cancer patients. We present the case of a 55-year-old female treated with adjuvant breast and regional nodal radiation following lumpectomy and axillary lymph node dissection for stage II invasive ductal carcinoma of the breast. She developed severe telangiectasia, fibrosis, induration, chest wall pain (with evidence of rib fractures on imaging), and painful limitation in her range of motion at the shoulder...
July 11, 2017: Curēus
https://www.readbyqxmd.com/read/28928376/oligo-fucoidan-prevents-il-6-and-ccl2-production-and-cooperates-with-p53-to-suppress-atm-signaling-and-tumor-progression
#2
Li-Mei Chen, Po-Yen Liu, Yen-An Chen, Hong-Yu Tseng, Pei-Chun Shen, Pai-An Hwang, Hsin-Ling Hsu
Low-molecular-weight Fucoidan (Oligo-Fucoidan) is a sulfated polysaccharide that has a variety of biological effects and has also been shown to have beneficial health effects. However, the molecular mechanisms underlying the therapeutic effects of Oligo-Fucoidan in patients with cancer remain unclear. Using human colorectal cancer HCT116 cells with (p53(+/+)) or without (p53(-/-)) normal p53 expression, we found that Oligo-Fucoidan treatment reduces the occurrence of spontaneous DNA lesions. Etoposide induces double strand DNA breaks...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28924389/structural-maintenance-of-chromosomes-protein-1-role-in-genome-stability-and-tumorigenesis
#3
REVIEW
Fei Yi, Zhuo Wang, Jingwei Liu, Ying Zhang, Zhijun Wang, Hongde Xu, Xiaoman Li, Ning Bai, Liu Cao, Xiaoyu Song
SMC1 (Structural Maintenance of Chromosomes protein 1), well known as one of the SMC superfamily members, has been explored to function in many activities including chromosome dynamics, cell cycle checkpoint, DNA damage repair and genome stability. Upon being properly assembled as part of cohesin, SMC1 can be phosphorylated by ATM and mediate downstream DNA damage repair after ionizing irradiation. Abnormal gene expression or mutation of SMC1 can cause defect in the DNA damage repair pathway, which has been strongly associated with tumorigenesis...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28916473/down-regulation-of-nox2-activity-in-phagocytes-mediated-by-atm-kinase-dependent-phosphorylation
#4
Sylvain Beaumel, Antoine Picciocchi, Franck Debeurme, Corinne Vivès, Anne-Marie Hesse, Myriam Ferro, Didier Grunwald, Heather Stieglitz, Pahk Thepchatri, Susan M E Smith, Franck Fieschi, Marie José Stasia
NADPH oxidases (NOX) have many biological roles, but their regulation to control production of potentially toxic ROS molecules remains unclear. A previously identified insertion sequence of 21 residues (called NIS) influences NOX activity, and its predicted flexibility makes it a good candidate for providing a dynamic switch controlling the NOX active site. We constructed NOX2 chimeras in which NIS had been deleted or exchanged with those from other NOXs (NIS1, 3 and 4). All contained functional heme and were expressed normally at the plasma membrane of differentiated PLB-985 cells...
September 13, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28916186/clinical-immunological-and-genetic-spectrum-of-696-patients-with-combined-immunode%C3%AF-ciency
#5
Hassan Abolhassani, Janet Chou, Wayne Bainter, Craig Platt, Mahmood Tavassoli, Toba Momen, Marzieh Tavakol, Mohammad Hossein Eslamian, Mohammad Gharagozlou, Masoud Movahedi, Mohsen Ghadami, Amir Ali Hamidieh, Gholamreza Azizi, Reza Yazdani, Mohsen Afarideh, Alireza Ghajar, Arash Havaei, Zahra Chavoushzadeh, Seyed Alireza Mahdaviani, Taher Cheraghi, Nasrin Behniafard, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Najmeddin Kalantari, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Abbas Dabbaghzadeh, Afshin Shirkani, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Javad Tafaroji, Abbas Khalili, Javad Mohammadi, Babak Negahdari, Mohammad-Taghi Joghataei, Basel K Al-Ramadi, Capucine Picard, Nima Parvaneh, Nima Rezaei, Talal Chatila, Michel J Massaad, Sevgi Keles, Lennart Hammarström, Raif S Geha, Asghar Aghamohammadi
BACKGROUND: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. OBJECTIVES: This study aims to characterize the categories of CID patients in Iran clinically and genetically. METHODS: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and non-syndromic CIDs (352 patients)...
September 12, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28905785/re-germline-mutations-in-atm-and-brca1-2-distinguish-risk-for-lethal-and-indolent-prostate-cancer-and-are-associated-with-early-age-at-death
#6
Samir S Taneja
No abstract text is available yet for this article.
October 2017: Journal of Urology
https://www.readbyqxmd.com/read/28898322/-new-mutation-in-atm-gen-in-patient-whith-ataxia-telangiectasia-clinical-case
#7
Felipe Ruiz-Botero, Juliet T Rodríguez-Guerrero
INTRODUCTION: The ataxia telangiectasia syndrome (AT) is a genetic disease with an autosomal recessive inheritance pattern, with multisystem involvement and a broad clinical spectrum. It is caused by the mutation of the ATM gene, causing reduction or absence of the ATM proteinkinase, altering processes in the cell cycle, DNA repair and apoptosis. The objective of this article is to report the case of a patient with ataxia telangiectasia syndrome, caused by a mutation not previously reported in the literature...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28895177/a-novel-use-for-olaparib-for-treatment-of-metastatic-castration-recurrent-prostate-cancer
#8
Grace A Martin, Adrienne H Chen, Kinjal Parikh
Although mortality from prostate cancer has declined over the past 20 years as a result of early detection and treatment, the 5-year survival rate for men with prostate cancer who develop metastatic disease is only 29%. Current treatment options for metastatic castration-recurrent prostate cancer (mCRPC) are associated with toxicity and a limited durable response; therefore, additional lines of efficacious and minimally toxic therapy are needed. Olaparib, a poly(adenosine 5'-diphosphate) ribose polymerase (PARP) inhibitor, received United States Food and Drug Administration breakthrough therapy designation in January 2016 for the treatment of patients with BRCA1/2 or ATM gene-mutated mCRPC based on results of a compelling phase II trial of olaparib in patients with advanced castration resistant prostate cancer (TOPARP-A)...
September 12, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28894253/atm-deficiency-increases-genomic-instability-and-metastatic-potential-in-a-mouse-model-of-pancreatic-cancer
#9
Yiannis Drosos, David Escobar, Ming-Yi Chiang, Kathryn Roys, Virginia Valentine, Marc B Valentine, Jerold E Rehg, Vaibhav Sahai, Lesa A Begley, Jianming Ye, Leena Paul, Peter J McKinnon, Beatriz Sosa-Pineda
Germline mutations in ATM (encoding the DNA-damage signaling kinase, ataxia-telangiectasia-mutated) increase Familial Pancreatic Cancer (FPC) susceptibility, and ATM somatic mutations have been identified in resected human pancreatic tumors. Here we investigated how Atm contributes to pancreatic cancer by deleting this gene in a murine model of the disease expressing oncogenic Kras (Kras(G12D)). We show that partial or total ATM deficiency cooperates with Kras(G12D) to promote highly metastatic pancreatic cancer...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28894083/ataxia-telangiectasia-mutated-atm-protein-signaling-participates-in-development-of-pulmonary-arterial-hypertension-in-rats
#10
Fan Hu, Caijun Liu, Hanmin Liu, Liang Xie, Li Yu
BACKGROUND Previous studies revealed physiological and pathogenetic similarity between vascular smooth muscles cells with severe pulmonary arterial hypertension and tumors. The DNA damage response was found in both pulmonary arterial hypertension (PAH) cells and tumors. The ataxia-telangiectasia mutated proteins (ATM) pathway is considered an important factor in the DNA damage response of tumor formation, but its function in the development of PAH remains unknown. MATERIAL AND METHODS The Sprague-Dawley rat PAH model was established...
September 12, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28893936/take-your-pikk-tumour-viruses-and-dna-damage-response-pathways
#11
REVIEW
Neha J Pancholi, Alexander M Price, Matthew D Weitzman
Viruses regulate cellular processes to facilitate viral replication. Manipulation of nuclear proteins and pathways by nuclear replicating viruses often causes cellular genome instability that contributes to transformation. The cellular DNA damage response (DDR) safeguards the host to maintain genome integrity, but DNA tumour viruses can manipulate the DDR to promote viral propagation. In this review, we describe the interactions of DNA tumour viruses with the phosphatidylinositol 3-kinase-like protein kinase (PIKK) pathways, which are central regulatory arms of the DDR...
October 19, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28891274/breast-cancer-risk-and-germline-genomic-profiling-of-women-with-neurofibromatosis-type-1-who-developed-breast-cancer
#12
Xia Wang, Jamie K Teer, Renee N Tousignant, Albert M Levin, David Boulware, Dhananjay A Chitale, Brandon M Shaw, Zhihua Chen, Yonghong Zhang, Jaishri O Blakeley, Maria T Acosta, Ludwine M Messiaen, Bruce R Korf, Michael A Tainsky
NF1 mutations predispose to neurofibromatosis type1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exon sequencing (WES), targeted genomic DNA based and RNA based analysis of the NF1 gene...
September 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28891048/identifying-actionable-variants-using-next-generation-sequencing-in-patients-with-a-historical-diagnosis-of-undifferentiated-pleomorphic-sarcoma
#13
Jeremy Lewin, Swati Garg, Beatrice Y Lau, Brendan C Dickson, Frank Traub, Nalan Gokgoz, Anthony M Griffin, Peter C Ferguson, Irene L Andrulis, Hao-Wen Sim, Suzanne Kamel-Reid, Tracy L Stockley, Lillian Siu, Jay S Wunder, Albiruni Ra Razak
There are limited data regarding the molecular characterization of undifferentiated pleomorphic sarcomas (UPS; formerly malignant fibrous histiocytoma). This study aimed to investigate the utility of next generation sequencing (NGS) in UPS to identify subsets of patients who harbour actionable mutations. Patients diagnosed with UPS underwent pathological re-evaluation by a pathologist specializing in sarcoma. Tumor DNA was isolated from archived fresh frozen tissue samples and genotyped using NGS with the Illumina MiSeq TruSeq Amplicon Cancer Panel (48 genes, 212 amplicons)...
September 10, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28888541/frequency-of-mutations-in-a-large-series-of-clinically-ascertained-ovarian-cancer-cases-tested-on-multi-gene-panels-compared-to-reference-controls
#14
Jenna Lilyquist, Holly LaDuca, Eric Polley, Brigette Tippin Davis, Hermela Shimelis, Chunling Hu, Steven N Hart, Jill S Dolinsky, Fergus J Couch, David E Goldgar
OBJECTIVES: Given the lack of adequate screening modalities, knowledge of ovarian cancer risks for carriers of pathogenic alterations in predisposition genes is important for decisions about risk-reduction by salpingo-oophorectomy. We sought to determine which genes assayed on multi-gene panels are associated with ovarian cancer, the magnitude of the associations, and for which clinically meaningful associations could be ruled out. METHODS: 7768 adult ovarian cancer cases of European ancestry referred to a single clinical testing laboratory underwent multi-gene panel testing for detection of pathogenic alterations in known or suspected ovarian cancer susceptibility genes...
September 7, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28878254/germline-mutations-in-cancer-predisposition-genes-are-frequent-in-sporadic-sarcomas
#15
Sock Hoai Chan, Weng Khong Lim, Nur Diana Binte Ishak, Shao-Tzu Li, Wei Lin Goh, Gek San Tan, Kiat Hon Lim, Melissa Teo, Cedric Ng Chuan Young, Simeen Malik, Mann Hong Tan, Jonathan Yi Hui Teh, Francis Kuok Choon Chin, Sittampalam Kesavan, Sathiyamoorthy Selvarajan, Patrick Tan, Bin Tean Teh, Khee Chee Soo, Mohamad Farid, Richard Quek, Joanne Ngeow
Associations of sarcoma with inherited cancer syndromes implicate genetic predisposition in sarcoma development. However, due to the apparently sporadic nature of sarcomas, little attention has been paid to the role genetic susceptibility in sporadic sarcoma. To address this, we performed targeted-genomic sequencing to investigate the prevalence of germline mutations in known cancer-associated genes within an Asian cohort of sporadic sarcoma patients younger than 50 years old. We observed 13.6% (n = 9) amongst 66 patients harbour at least one predicted pathogenic germline mutation in 10 cancer-associated genes including ATM, BRCA2, ERCC4, FANCC, FANCE, FANCI, MSH6, POLE, SDHA and TP53...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28873240/gastric-poorly-cohesive-carcinoma-a-correlative-study-of-mutational-signatures-and-prognostic-significance-based-on-histopathologic-subtypes
#16
Chae Hwa Kwon, Young Keum Kim, Sojeong Lee, Ahrong Kim, Hye Ji Park, Yuri Choi, Yeo Jin Won, Do Youn Park, Gregory Y Lauwers
AIMS: Genome-wide next-generation sequencing has revealed several driver mutations and allows establishing a molecular taxonomy of gastric cancer. However, correlation between the broad mutational spectrum of gastric cancer and its various clinicopathological characteristics has yet to be fully elucidated. METHODS AND RESULTS: Herein, we analyzed the mutational pattern of 77 genes in a cohort of 91 patients with poorly cohesive carcinoma using targeted sequencing and evaluated the clinicopathological significance of the various mutations based its histologic pattern, either signet ring cell (SRC) or other types of poorly cohesive carcinoma (not otherwise specified) (PCC-NOS)...
September 5, 2017: Histopathology
https://www.readbyqxmd.com/read/28858227/the-role-of-palb2-in-the-dna-damage-response-and-cancer-predisposition
#17
REVIEW
Thales C Nepomuceno, Giuliana De Gregoriis, Francisco M Bastos de Oliveira, Guilherme Suarez-Kurtz, Alvaro N Monteiro, Marcelo A Carvalho
The deoxyribonucleic acid (DNA) damage response (DDR) is a major feature in the maintenance of genome integrity and in the suppression of tumorigenesis. PALB2 (Partner and Localizer of Breast Cancer 2 (BRCA2)) plays an important role in maintaining genome integrity through its role in the Fanconi anemia (FA) and homologous recombination (HR) DNA repair pathways. Since its identification as a BRCA2 interacting partner, PALB2 has emerged as a pivotal tumor suppressor protein associated to hereditary cancer susceptibility to breast and pancreatic cancers...
August 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28851987/p53-represses-pyrimidine-catabolic-gene-dihydropyrimidine-dehydrogenase-dpyd-expression-in-response-to-thymidylate-synthase-ts-targeting
#18
Prashanth Gokare, Niklas K Finnberg, Phillip H Abbosh, Jenny Dai, Maureen E Murphy, Wafik S El-Deiry
Nucleotide metabolism in cancer cells can influence malignant behavior and intrinsic resistance to therapy. Here we describe p53-dependent control of the rate-limiting enzyme in the pyrimidine catabolic pathway, dihydropyrimidine dehydrogenase (DPYD) and its effect on pharmacokinetics of and response to 5-fluorouracil (5-FU). Using in silico/chromatin-immunoprecipitation (ChIP) analysis we identify a conserved p53 DNA-binding site (p53BS) downstream of the DPYD gene with increased p53 occupancy following 5-FU treatment of cells...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28851706/dna-damage-induces-a-kinetochore-based-atm-atr-independent-sac-arrest-unique-to-the-first-meiotic-division-in-mouse-oocytes
#19
Simon I R Lane, Stephanie L Morgan, Tianyu Wu, Josie K Collins, Julie A Merriman, Elias ElInati, James M Turner, Keith T Jones
Mouse oocytes carrying DNA damage arrest in meiosis I, thereby preventing creation of embryos with deleterious mutations. The arrest is dependent on the spindle assembly checkpoint, which results in anaphase-promoting complex (APC) inhibition. However, little is understood about how this checkpoint is engaged following DNA damage. Here, we find that within minutes DNA damage assembles checkpoint proteins at the kinetochore, not at damage sites along chromosome arms, such that the APC is fully inhibited within 30 min...
August 29, 2017: Development
https://www.readbyqxmd.com/read/28846868/transcription-coupled-repair-deficiency-protects-against-human-mutagenesis-and-carcinogenesis-personal-reflections-on-the-50th-anniversary-of-the-discovery-of-xeroderma-pigmentosum
#20
REVIEW
James E Cleaver
Xeroderma pigmentosum (XP) patients who lack the main damage recognition protein for global genome repair (GGR), XPC, have greatly increased skin cancer rates and elevated mutation frequencies originating from unrepaired ultraviolet photoproducts in the nontranscribed regions of the genome and in nontranscribed strands of expressed genes. But they show no increased mutations in transcribed strands. In contrast, cancer is absent from Cockayne syndrome (CS) patients that have defective transcription coupled repair (TCR) despite severe photosensitivity, CS patients remarkably show no elevation of UV induced mutagenesis implying that defective TCR may be protective against mutagenesis and carcinogenesis...
August 23, 2017: DNA Repair
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