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Michaela S. Banck, … , Matthew M. Ames, Andreas S. Beutler
Published May 15, 2013
Citation Information: J Clin Invest. 2013;123(6):2502-2508. https://doi.org/10.1172/JCI67963.
Citation Information: J Clin Invest. 2013;123(6):2502-2508. https://doi.org/10.1172/JCI67963.
Abstract
Small intestine neuroendocrine tumors (SI-NETs) are the most common malignancy of the small bowel. Several clinical trials target PI3K/Akt/mTOR signaling; however, it is unknown whether these or other genes are genetically altered in these tumors. To address the underlying genetics, we analyzed 48 SI-NETs by massively parallel exome sequencing. We detected an average of 0.1 somatic single nucleotide variants (SNVs) per 106 nucleotides (range, 0–0.59), mostly transitions (C>T and A>G), which suggests that SI-NETs are stable cancers. 197 protein-altering somatic SNVs affected a preponderance of cancer genes, including
Authors
Michaela S. Banck, Rahul Kanwar, Amit A. Kulkarni, Ganesh K. Boora, Franziska Metge, Benjamin R. Kipp, Lizhi Zhang, Erik C. Thorland, Kay T. Minn, Ramesh Tentu, Bruce W. Eckloff, Eric D. Wieben, Yanhong Wu, Julie M. Cunningham, David M. Nagorney, Judith A. Gilbert, Matthew M. Ames, Andreas S. Beutler
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Citations to this article (151)
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Functional Defects From Endocrine Disease–Associated Mutations in HLXB9 and Its Interacting Partner, NONO
SS Kharade, VI Parekh, SK Agarwal |
Endocrinology | 2018 |
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Decrease of 5-hydroxymethylcytosine and TET1 with nuclear exclusion of TET2 in small intestinal neuroendocrine tumors
E Barazeghi, S Prabhawa, O Norlén, P Hellman, P Stålberg, G Westin |
BMC Cancer | 2018 |
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Lactobacillus rhamnosus GG Affects Microbiota and Suppresses Autophagy in the Intestines of Pigs Challenged with Salmonella Infantis
W Zhang, YH Zhu, GY Yang, X Liu, B Xia, X Hu, JH Su, JF Wang |
Frontiers in microbiology | 2018 |
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A common classification framework for neuroendocrine neoplasms: an International Agency for Research on Cancer (IARC) and World Health Organization (WHO) expert consensus proposal
G Rindi, DS Klimstra, B Abedi-Ardekani, SL Asa, FT Bosman, E Brambilla, KJ Busam, RR de Krijger, M Dietel, AK El-Naggar, L Fernandez-Cuesta, G Klöppel, WG McCluggage, H Moch, H Ohgaki, EA Rakha, NS Reed, BA Rous, H Sasano, A Scarpa, JY Scoazec, WD Travis, G Tallini, J Trouillas, JH van Krieken, IA Cree |
Modern Pathology | 2018 |
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PD-L1 expression and presence of TILs in small intestinal neuroendocrine tumours
A Lamarca, D Nonaka, W Breitwieser, G Ashton, J Barriuso, MG McNamara, S Moghadam, J Rogan, W Mansoor, RA Hubner, C Clark, B Chakrabarty, JW Valle |
Oncotarget | 2018 |
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Mutational and copy number asset of primary sporadic neuroendocrine tumors of the small intestine
M Simbolo, C Vicentini, A Mafficini, M Fassan, S Pedron, V Corbo, L Mastracci, B Rusev, C Pedrazzani, L Landoni, F Grillo, S Cingarlini, G Rindi, C Luchini, A Scarpa, RT Lawlor |
Virchows Archiv | 2018 |
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DAXX Mutation Status of Embolization-Treated Neuroendocrine Tumors Predicts Shorter Time to Hepatic Progression
E Ziv, SL Rice, J Filtes, H Yarmohammadi, FE Boas, JP Erinjeri, EN Petre, LA Brody, KT Brown, AM Covey, GI Getrajdman, M Maybody, N Raj, CT Sofocleous, SB Solomon, D Reidy-Lagunes |
Journal of vascular and interventional radiology : JVIR | 2018 |
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Comprehensive genomic profiling identifies novel NTRK fusions in neuroendocrine tumors
DS Sigal, MS Bhangoo, JA Hermel, DC Pavlick, G Frampton, VA Miller, JS Ross, SM Ali |
Oncotarget | 2018 |
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Enteroendocrine cells-sensory sentinels of the intestinal environment and orchestrators of mucosal immunity
JJ Worthington, F Reimann, FM Gribble |
Mucosal Immunology | 2017 |
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The selective PI3Kα inhibitor BYL719 as a novel therapeutic option for neuroendocrine tumors: Results from multiple cell line models
S Nölting, J Rentsch, H Freitag, K Detjen, F Briest, M Möbs, V Weissmann, B Siegmund, CJ Auernhammer, ET Prada, M Lauseker, A Grossman, S Exner, C Fischer, C Grötzinger, J Schrader, P Grabowski, A Ahmad |
PloS one | 2017 |
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Targeted therapy of gastroenteropancreatic neuroendocrine tumours: preclinical strategies and future targets
ET Prada, CJ Auernhammer |
Endocrine Connections | 2017 |
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mTOR inhibitors activate PERK signaling and favor viability of gastrointestinal neuroendocrine cell lines
F Patricia, B Julien, L Justine, M Patrick, F Joëlle, V Cécile, W Thomas, M Serge, R Colette, S Jean-Yves, FP Carole |
Oncotarget | 2017 |
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Loss of DPC4/SMAD4 expression in primary gastrointestinal neuroendocrine tumors is associated with cancer-related death after resection
CL Roland, LF Starker, Y Kang, D Chatterjee, J Estrella, A Rashid, MH Katz, TA Aloia, JE Lee, A Dasari, JC Yao, JB Fleming |
Surgery | 2017 |
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Cyto-histology in NET: what is necessary today and what is the future?
F Inzani, G Petrone, G Fadda, G Rindi |
Reviews in Endocrine and Metabolic Disorders | 2017 |
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Association between the functional polymorphism Ile31Phe in the AURKA gene and susceptibility of hepatocellular carcinoma in chronic hepatitis B virus carriers
Z Bao, L Lu, X Liu, B Guo, Y Zhai, Y Li, Y Wang, B Xie, Q Ren, P Cao, Y Han, W Jia, M Chen, X Liang, X Wang, YX Zeng, F He, H Zhang, Y Cui, G Zhou |
Oncotarget | 2017 |
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A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors
JP Dumanski, C Rasi, P Björklund, H Davies, AS Ali, M Grönberg, S Welin, H Sorbye, H Grønbæk, JL Cunningham, LA Forsberg, L Lind, E Ingelsson, P Stålberg, P Hellman, ET Janson |
Endocrine Related Cancer | 2017 |
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Intratumoral heterogeneity of esophageal squamous cell carcinoma
D Walter |
Journal of Thoracic Disease | 2017 |
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Exploiting induced senescence in intestinal organoids to drive enteroendocrine cell expansion
RG Ramsay, HE Abud |
Stem Cell Investigation | 2017 |
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Gastroenteropancreatic neuroendocrine tumors: recommendations of Turkish multidisciplinary neuroendocrine tumor study group on diagnosis, treatment and follow-up
S Yalcin, F Bayram, S Erdamar, O Kucuk, N Oruc, A Coker |
Archives of Medical Science : AMS | 2017 |
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Predicting the survival of patients with small bowel neuroendocrine tumours: comparison of 3 systems
AK Clift, O Faiz, R Goldin, J Martin, H Wasan, MO Liedke, E Schloericke, A Malczewska, G Rindi, M Kidd, IM Modlin, A Frilling |
Endocrine Connections | 2017 |
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The Treatment Landscape and New Opportunities of Molecular Targeted Therapies in Gastroenteropancreatic Neuroendocrine Tumors
F Amair-Pinedo, I Matos, T Saurí, J Hernando, J Capdevila |
Targeted Oncology | 2017 |
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Changes in gene expression in small bowel neuroendocrine tumors associated with progression to metastases
KJ Keck, P Breheny, TA Braun, B Darbro, G Li, JS Dillon, AM Bellizzi, TM O'Dorisio, JR Howe |
Surgery | 2017 |
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Medical Therapy of Gastrointestinal Neuroendocrine Tumors
K Öberg |
Viszeralmedizin | 2017 |
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Clinical and Preclinical Advances in Gastroenteropancreatic Neuroendocrine Tumor Therapy
JS Crabtree |
Frontiers in Endocrinology | 2017 |
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Functional malignant cell heterogeneity in pancreatic neuroendocrine tumors revealed by targeting of PDGF-DD
E Cortez, H Gladh, S Braun, M Bocci, E Cordero, NK Björkström, H Miyazaki, IP Michael, U Eriksson, E Folestad, K Pietras |
Proceedings of the National Academy of Sciences | 2016 |
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Notch Signaling in Neuroendocrine Tumors
JS Crabtree, CS Singleton, L Miele |
Frontiers in Oncology | 2016 |
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The PI3K/Akt Pathway in Tumors of Endocrine Tissues
HL Robbins, A Hague |
Frontiers in Endocrinology | 2016 |
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Molecular profiling of neuroendocrine malignancies to identify prognostic and therapeutic markers: a Fox Chase Cancer Center Pilot Study
N Vijayvergia, PM Boland, E Handorf, KS Gustafson, Y Gong, HS Cooper, F Sheriff, I Astsaturov, SJ Cohen, PF Engstrom |
British Journal of Cancer | 2016 |
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Expression profiling of small intestinal neuroendocrine tumors identifies subgroups with clinical relevance, prognostic markers and therapeutic targets
E Andersson, Y Arvidsson, C Swärd, T Hofving, B Wängberg, E Kristiansson, O Nilsson |
Modern Pathology | 2016 |
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Genomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a Pediatric Patient:
T Bhatla, S Dandekar, BY Lu, J Wang, E Han, D Bitterman, CL Jones, NA Evensen, M Magid, JA Meyer, WL Carroll |
Journal of Pediatric Hematology/Oncology | 2016 |
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A plausible role for actin gamma smooth muscle 2 (ACTG2) in small intestinal neuroendocrine tumorigenesis
K Edfeldt, P Hellman, G Westin, P Stalberg |
BMC Endocrine Disorders | 2016 |
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Translational research in neuroendocrine tumors: pitfalls and opportunities
J Capdevila, O Casanovas, R Salazar, D Castellano, A Segura, P Fuster, J Aller, R García-Carbonero, P Jimenez-Fonseca, E Grande, JP Castaño |
Oncogene | 2016 |
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Towards a new classification of gastroenteropancreatic neuroendocrine neoplasms
M Kidd, I Modlin, K Öberg |
Nature Reviews Clinical Oncology | 2016 |
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BRAFV600E Mutations in High-Grade Colorectal Neuroendocrine Tumors May Predict Responsiveness to BRAF-MEK Combination Therapy
SJ Klempner, B Gershenhorn, P Tran, TK Lee, MG Erlander, K Gowen, AB Schrock, D Morosini, JS Ross, VA Miller, PJ Stephens, SH Ou, SM Ali |
Cancer Discovery | 2016 |
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Small bowel neuroendocrine tumors: From pathophysiology to clinical approach
S Xavier |
World journal of gastrointestinal pathophysiology | 2016 |
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A Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma among European Descendants
SJ Siiskonen, M Zhang, WQ Li, L Liang, P Kraft, T Nijsten, J Han, AA Qureshi |
Cancer epidemiology, biomarkers & prevention | 2016 |
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Divergent clonal evolution of castration-resistant neuroendocrine prostate cancer
H Beltran, D Prandi, JM Mosquera, M Benelli, L Puca, J Cyrta, C Marotz, E Giannopoulou, BV Chakravarthi, S Varambally, SA Tomlins, DM Nanus, ST Tagawa, EM van Allen, O Elemento, A Sboner, LA Garraway, MA Rubin, F Demichelis |
Nature Medicine | 2016 |
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HUR protects NONO from degradation by mir320, which is induced by p53 upon UV irradiation
L Alfano, C Costa, A Caporaso, D Antonini, A Giordano, F Pentimalli |
Oncotarget | 2016 |
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Summary of emerging personalized medicine in neuroendocrine tumors: are we on track?
MS Lee, BH ONeil |
Journal of Gastrointestinal Oncology | 2016 |
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A Delphic consensus assessment: imaging and biomarkers in gastroenteropancreatic neuroendocrine tumor disease management
K Oberg, E Krenning, A Sundin, L Bodei, M Kidd, M Tesselaar, V Ambrosini, RP Baum, M Kulke, M Pavel, J Cwikla, I Drozdov, M Falconi, N Fazio, A Frilling, R Jensen, K Koopmans, T Korse, D Kwekkeboom, H Maecke, G Paganelli, R Salazar, S Severi, J Strosberg, V Prasad, A Scarpa, A Grossman, A Walenkamp, M Cives, I Virgolini, A Kjaer, IM Modlin |
Endocrine Connections | 2016 |
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Everolimus for the treatment of advanced, non-functional neuroendocrine tumours of the lung or gastrointestinal tract (RADIANT-4): a randomised, placebo-controlled, phase 3 study
JC Yao, N Fazio, S Singh, R Buzzoni, C Carnaghi, E Wolin, J Tomasek, M Raderer, H Lahner, M Voi, LB Pacaud, N Rouyrre, C Sachs, JW Valle, GD Fave, EV Cutsem, M Tesselaar, Y Shimada, DY Oh, J Strosberg, MH Kulke, ME Pavel |
Lancet | 2016 |
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A Selected Lactobacillus rhamnosus Strain Promotes EGFR-Independent Akt Activation in an Enterotoxigenic Escherichia coli K88-Infected IPEC-J2 Cell Model
W Zhang, YH Zhu, JC Yang, GY Yang, D Zhou, JF Wang, M Koval |
PloS one | 2015 |
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Nuclear imaging of neuroendocrine tumors with unknown primary: why, when and how?
P Santhanam, S Chandramahanti, A Kroiss, R Yu, P Ruszniewski, R Kumar, D Taïeb |
European Journal of Nuclear Medicine and Molecular Imaging | 2015 |
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Decoding the Molecular and Mutational Ambiguities of Gastroenteropancreatic Neuroendocrine Neoplasm Pathobiology
M Kidd, IM Modlin, L Bodei, I Drozdov |
CMGH Cellular and Molecular Gastroenterology and Hepatology | 2015 |
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Liver Metastases of Small Intestine Neuroendocrine Tumors: Ki-67 Heterogeneity and World Health Organization Grade Discordance With Primary Tumors
C Shi, RS Gonzalez, Z Zhao, T Koyama, TC Cornish, KR Hande, R Walker, M Sandler, J Berlin, EH Liu |
American Journal of Clinical Pathology | 2015 |
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Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes
S Caburet, M Anttonen, AL Todeschini, L Unkila-Kallio, D Mestivier, R Butzow, RA Veitia |
BMC Cancer | 2015 |
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NONO regulates the intra-S-phase checkpoint in response to UV radiation
L Alfano, C Costa, A Caporaso, A Altieri, P Indovina, M Macaluso, A Giordano, F Pentimalli |
Oncogene | 2015 |
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A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase
Y Sei, X Zhao, J Forbes, S Szymczak, Q Li, A Trivedi, M Voellinger, G Joy, J Feng, M Whatley, MP Jones, UL Harper, SJ Marx, AM Venkatesan, SC Chandrasekharappa, M Raffeld, MM Quezado, A Louie, CC Chen, RM Lim, R Agarwala, AA Schäffer, MS Hughes, JE Bailey-Wilson, SA Wank |
Gastroenterology | 2015 |
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High-Level HOOK3 Expression Is an Independent Predictor of Poor Prognosis Associated with Genomic Instability in Prostate Cancer
N Melling, L Harutyunyan, C Hube-Magg, M Kluth, R Simon, P Lebok, S Minner, MC Tsourlakis, C Koop, M Graefen, M Adam, A Haese, C Wittmer, S Steurer, J Izbicki, G Sauter, W Wilczak, T Schlomm, T Krech, Z Culig |
PloS one | 2015 |
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Somatic alterations of CDKN1B are associated with small bowel neuroendocrine tumors
JE Maxwell, SK Sherman, G Li, AB Choi, AM Bellizzi, TM O'Dorisio, JR Howe |
Cancer Genetics | 2015 |
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Application and Dosimetric Requirements for Gallium-68–labeled Somatostatin Analogues in Targeted Radionuclide Therapy for Gastroenteropancreatic Neuroendocrine Tumors
D Taïeb, P Garrigue, M Bardiès, AE Abdullah, K Pacak |
PET Clinics | 2015 |
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Gene network-based analysis identifies two potential subtypes of small intestinal neuroendocrine tumors
M Kidd, IM Modlin, I Drozdov |
BMC Genomics | 2014 |
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25 Years of Neuroendocrine Neoplasms of the Gastrointestinal Tract
G Rindi, G Petrone, F Inzani |
Endocrine Pathology | 2014 |
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Advances in small bowel neuroendocrine neoplasia:
MS Banck, AS Beutler |
Current Opinion in Gastroenterology | 2014 |
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Clinical Application of MicroRNA Testing in Neuroendocrine Tumors of the Gastrointestinal Tract
C Vicentini, M Fassan, E D'Angelo, V Corbo, N Silvestris, G Nuovo, A Scarpa |
Molecules (Basel, Switzerland) | 2014 |
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Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours
J Crona, M Nordling, R Maharjan, D Granberg, P Stålberg, P Hellman, P Björklund |
PloS one | 2014 |
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Clinical biomarkers of pulmonary carcinoid tumors in never smokers via profiling miRNA and target mRNA
B Deng, J Molina, MC Aubry, Z Sun, L Wang, BW Eckloff, G Vasmatzis, M You, ED Wieben, J Jen, DA Wigle, P Yang |
Cell & Bioscience | 2014 |
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Cadherin 17 is frequently expressed by ‘sclerosing variant’ pancreatic neuroendocrine tumour
A Johnson, JP Wright, Z Zhao, T Komaya, A Parikh, N Merchant, C Shi |
Histopathology | 2014 |
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Copy number alterations in small intestinal neuroendocrine tumors determined by array comparative genomic hybridization
J Hashemi, O Fotouhi, L Sulaiman, M Kjellman, A Höög, J Zedenius, C Larsson |
BMC Cancer | 2013 |
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Current Perspective on the Pathogenesis of Small Intestinal Neuroendocrine Tumors: Progress in Biomarkers and Molecular Events
YX Chen, JY Fang |
Gastrointestinal Tumors | 2013 |
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