Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Frontiers In Genetics
Kagan, Maayan M; Semo-Oz, Rotem R; Ben Moshe, Yishay Y; Atias-Varon, Danit D; Tirosh, Irit I; Stern-Zimmer, Michal M; Eliyahu, Aviva A; Raas-Rothschild, Annick A; Bivas, Maayan M; Shlomovitz, Omer O; Chorin, Odelia O; Rock, Rachel R; Tzadok, Michal M; Ben-Zeev, Bruria B; Heimer, Gali G; Bolkier, Yoav Y; Gruber, Noah N; Dagan, Adi A; Bar Aluma, Bat El BE; Pessach, Itai M IM; Rechavi, Gideon G; Barel, Ortal O; Pode-Shakked, Ben B; Anikster, Yair Y; Vivante, Asaf A
CUDC907, a dual phosphoinositide-3 kinase/histone deacetylase inhibitor, promotes apoptosis of NF2 Schwannoma cells.
Oncotarget
Huegel, Julianne J; Dinh, Christine T CT; Martinelli, Maria M; Bracho, Olena O; Rosario, Rosa R; Hardin, Haley H; Estivill, Michael M; Griswold, Anthony A; Gultekin, Sakir S; Liu, Xue-Zhong XZ; Fernandez-Valle, Cristina C
Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.
Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Screening of potential novel candidate genes in schwannomatosis patients.
Human Mutation
Perez-Becerril, Cristina C; Wallace, Andrew J AJ; Schlecht, Helene H; Bowers, Naomi L NL; Smith, Philip T PT; Gokhale, Carolyn C; Eaton, Helen H; Charlton, Chris C; Robinson, Rachel R; Charlton, Ruth S RS; Evans, D Gareth DG; Smith, Miriam J MJ
Publication Date: 2022-10
Variant appearance in text: NF2: 784C>T; Arg262Ter
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma.
Genome Medicine
Creaney, Jenette J; Patch, Ann-Marie AM; Addala, Venkateswar V; Sneddon, Sophie A SA; Nones, Katia K; Dick, Ian M IM; Lee, Y C Gary YCG; Newell, Felicity F; Rouse, Ebony J EJ; Naeini, Marjan M MM; Kondrashova, Olga O; Lakis, Vanessa V; Nakas, Apostolos A; Waller, David D; Sharkey, Annabel A; Mukhopadhyay, Pamela P; Kazakoff, Stephen H SH; Koufariotis, Lambros T LT; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Holmes, Oliver O; Xu, Qinying Q; Leonard, Conrad C; Wood, Scott S; Grimmond, Sean M SM; Bueno, Raphael R; Fennell, Dean A DA; Pearson, John V JV; Robinson, Bruce W BW; Waddell, Nicola N
Publication Date: 2022-05-30
Variant appearance in text: NF2: 784C>T; Arg262*; rs74315496
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Marazioti, Antonia A; Krontira, Anthi C AC; Behrend, Sabine J SJ; Giotopoulou, Georgia A GA; Ntaliarda, Giannoula G; Blanquart, Christophe C; Bayram, Hasan H; Iliopoulou, Marianthi M; Vreka, Malamati M; Trassl, Lilith L; Pepe, Mario A A MAA; Hackl, Caroline M CM; Klotz, Laura V LV; Weiss, Stefanie A I SAI; Koch, Ina I; Lindner, Michael M; Hatz, Rudolph A RA; Behr, Juergen J; Wagner, Darcy E DE; Papadaki, Helen H; Antimisiaris, Sophia G SG; Jean, Didier D; Deshayes, Sophie S; Grégoire, Marc M; Kayalar, Özgecan Ö; Mortazavi, Deniz D; Dilege, Şükrü Ş; Tanju, Serhan S; Erus, Suat S; Yavuz, Ömer Ö; Bulutay, Pınar P; Fırat, Pınar P; Psallidas, Ioannis I; Spella, Magda M; Giopanou, Ioanna I; Lilis, Ioannis I; Lamort, Anne-Sophie AS; Stathopoulos, Georgios T GT
Marazioti, Antonia A; Krontira, Anthi C AC; Behrend, Sabine J SJ; Giotopoulou, Georgia A GA; Ntaliarda, Giannoula G; Blanquart, Christophe C; Bayram, Hasan H; Iliopoulou, Marianthi M; Vreka, Malamati M; Trassl, Lilith L; Pepe, Mario A A MAA; Hackl, Caroline M CM; Klotz, Laura V LV; Weiss, Stefanie A I SAI; Koch, Ina I; Lindner, Michael M; Hatz, Rudolph A RA; Behr, Juergen J; Wagner, Darcy E DE; Papadaki, Helen H; Antimisiaris, Sophia G SG; Jean, Didier D; Deshayes, Sophie S; Grégoire, Marc M; Kayalar, Özgecan Ö; Mortazavi, Deniz D; Dilege, Şükrü Ş; Tanju, Serhan S; Erus, Suat S; Yavuz, Ömer Ö; Bulutay, Pınar P; Fırat, Pınar P; Psallidas, Ioannis I; Spella, Magda M; Giopanou, Ioanna I; Lilis, Ioannis I; Lamort, Anne-Sophie AS; Stathopoulos, Georgios T GT
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27
Variant appearance in text: NF2: 784C>T; Arg262X; rs74315496
Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.
Scientific Reports
Pemov, Alexander A; Dewan, Ramita R; Hansen, Nancy F NF; Chandrasekharappa, Settara C SC; Ray-Chaudhury, Abhik A; Jones, Kristine K; Luo, Wen W; Heiss, John D JD; Mullikin, James C JC; Chittiboina, Prashant P; Stewart, Douglas R DR; Asthagiri, Ashok R AR
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
European Journal Of Cancer (Oxford, England : 1990)
George, Sally L SL; Izquierdo, Elisa E; Campbell, James J; Koutroumanidou, Eleni E; Proszek, Paula P; Jamal, Sabri S; Hughes, Deborah D; Yuan, Lina L; Marshall, Lynley V LV; Carceller, Fernando F; Chisholm, Julia C JC; Vaidya, Sucheta S; Mandeville, Henry H; Angelini, Paola P; Wasti, Ajla A; Bexelius, Tomas T; Thway, Khin K; Gatz, Susanne A SA; Clarke, Matthew M; Al-Lazikani, Bissan B; Barone, Giuseppe G; Anderson, John J; Tweddle, Deborah A DA; Gonzalez, David D; Walker, Brian A BA; Barton, Jack J; Depani, Sarita S; Eze, Jessica J; Ahmed, Saira W SW; Moreno, Lucas L; Pearson, Andrew A; Shipley, Janet J; Jones, Chris C; Hargrave, Darren D; Jacques, Thomas S TS; Hubank, Michael M; Chesler, Louis L
Publication Date: 2019-11
Variant appearance in text: NF2: 784C>T; Arg262Ter
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: NF2: R262X; rs74315496
Neurofibromatosis type 2 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma.
International Journal Of Ophthalmology
Supartoto, Agus A; Mahayana, Indra Tri IT; Heriyanto, Didik Setyo DS; Sasongko, Muhammad Bayu MB; Respatika, Henricus Datu HD; Sakti, Dhimas Hari DH; Nurlaila, Prima Sugesty PS; Kusnanto, Hari H; Pawiroranu, Suhardjo S; Haryana, Sofia Mubarika SM
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
The Laryngoscope
Evans, D Gareth DG; Wallace, Andrew J AJ; Hartley, Claire C; Freeman, Simon R SR; Lloyd, Simon K SK; Thomas, Owen O; Axon, Patrick P; Hammerbeck-Ward, Charlotte L CL; Pathmanaban, Omar O; Rutherford, Scott A SA; Kellett, Mark M; Laitt, Roger R; King, Andrew T AT; Bischetsrieder, Jemma J; Blakeley, Jaishri J; Smith, Miriam J MJ
An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.
Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Copy number signatures and mutational processes in ovarian carcinoma.
Nature Genetics
Macintyre, Geoff G; Goranova, Teodora E TE; De Silva, Dilrini D; Ennis, Darren D; Piskorz, Anna M AM; Eldridge, Matthew M; Sie, Daoud D; Lewsley, Liz-Anne LA; Hanif, Aishah A; Wilson, Cheryl C; Dowson, Suzanne S; Glasspool, Rosalind M RM; Lockley, Michelle M; Brockbank, Elly E; Montes, Ana A; Walther, Axel A; Sundar, Sudha S; Edmondson, Richard R; Hall, Geoff D GD; Clamp, Andrew A; Gourley, Charlie C; Hall, Marcia M; Fotopoulou, Christina C; Gabra, Hani H; Paul, James J; Supernat, Anna A; Millan, David D; Hoyle, Aoisha A; Bryson, Gareth G; Nourse, Craig C; Mincarelli, Laura L; Sanchez, Luis Navarro LN; Ylstra, Bauke B; Jimenez-Linan, Mercedes M; Moore, Luiza L; Hofmann, Oliver O; Markowetz, Florian F; McNeish, Iain A IA; Brenton, James D JD
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.
Oncotarget
Hovelson, Daniel H DH; Liu, Chia-Jen CJ; Wang, Yugang Y; Kang, Qing Q; Henderson, James J; Gursky, Amy A; Brockman, Scott S; Ramnath, Nithya N; Krauss, John C JC; Talpaz, Moshe M; Kandarpa, Malathi M; Chugh, Rashmi R; Tuck, Missy M; Herman, Kirk K; Grasso, Catherine S CS; Quist, Michael J MJ; Feng, Felix Y FY; Haakenson, Christine C; Langmore, John J; Kamberov, Emmanuel E; Tesmer, Tim T; Husain, Hatim H; Lonigro, Robert J RJ; Robinson, Dan D; Smith, David C DC; Alva, Ajjai S AS; Hussain, Maha H MH; Chinnaiyan, Arul M AM; Tewari, Muneesh M; Mills, Ryan E RE; Morgan, Todd M TM; Tomlins, Scott A SA
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.
Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14
Variant appearance in text: merlin: R262X; rs74315496
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Genetic/molecular alterations of meningiomas and the signaling pathways targeted.
Oncotarget
Domingues, Patrícia P; González-Tablas, María M; Otero, Álvaro Á; Pascual, Daniel D; Ruiz, Laura L; Miranda, David D; Sousa, Pablo P; Gonçalves, Jesús María JM; Lopes, María Celeste MC; Orfao, Alberto A; Tabernero, María Dolores MD
Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.
Neuro-Oncology
Dewan, Ramita R; Pemov, Alex A; Kim, H Jeffrey HJ; Morgan, Keaton L KL; Vasquez, Raul A RA; Chittiboina, Prashant P; Wang, Xiang X; Chandrasekharappa, Settara C SC; Ray-Chaudhury, Abhik A; Butman, John A JA; Stewart, Douglas R DR; Asthagiri, Ashok R AR
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08
Variant appearance in text: NF2: R262*; rs74315496
Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Tanaka, Karo K; Eskin, Ascia A; Chareyre, Fabrice F; Jessen, Walter J WJ; Manent, Jan J; Niwa-Kawakita, Michiko M; Chen, Ruihong R; White, Cory H CH; Vitte, Jeremie J; Jaffer, Zahara M ZM; Nelson, Stanley F SF; Rubenstein, Allan E AE; Giovannini, Marco M