Accès ouvert déclaré
2018
article
Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types
Michael Seiler, Shouyong Peng, Anant A. Agrawal, James J. Palacino, Teng Teng, Ping Zhu, Peter G. Smith, Rory Johnson, John A. Demchok, Ina Felau, Melpomeni Kasapi, Martin L. Ferguson, Carolyn M. Hutter, Heidi J. Sofia, Roy W Tarnuzzer, Liming Yang, Jean Claude Zenklusen, Jiashan Zhang, Sudha Chudamani, Jia Liu, Laxmi Lolla, Rashi Naresh, Todd Pihl, Qiang Sun, Yunhu Wan, Ye Wu, Juok Cho, Timothy Defreitas, Scott Frazer, Nils Gehlenborg, Gad A. Getz, David I. Heiman, Jaegil Kim, Michael S. Lawrence, Pei Yi Lin, Michael S. Noble, Gordon Saksena, Doug Voet, Hailei Zhang, Brady M. Bernard, Nyasha Chambwe, Varsha Dhankani, Theo Knijnenburg, Roger Kramer, Kalle Leinonen, Yuexin Liu, Michael J. Miller, Sheila M. Reynolds, Ilya Shmulevich, Vésteinn Thórsson, Wei Dong Zhang, Rehan Akbani, Bradley McIntosh Broom, Apurva M. Hegde, Zhenlin Ju, Rupa S. Kanchi, Anil Korkut, Jun Li, Han Liang, Shiyun Ling, Wenbin Liu, Yiling Lu, Gordon Brent Mills, Kwok-Shing Ng, Arvind Rao, Michaël Ryan, Jing Wang, John N. Weinstein, Jiexin Zhang, Adam A. Abeshouse, Joshua Armenia, Debyani Chakravarty, Walid Khaled Chatila, Ino de Bruijn, Galen F. Gao, Benjamin E Gross, Zachary J. Heins, Ritika Kundra, Konnor La, Marc Ladanyi, Augustin Luna, Moriah G. Nissan, Angelica Ochoa, Sarah M. Phillips, Ed Reznik, Francisco Sánchez-Vega, Chris Sander, Nikolaus D. Schultz, Robert P. Sheridan, Selçuk Onur Sümer, Yichao Sun, Barry S. Taylor, Jioajiao Wang, Hongxin Zhang, Pavana Anur, Myron Peto, Paul T. Spellman, Christopher C. Benz, Joshua M. Stuart, Christopher K. Wong, Christina S. F. Yau, David Neil Hayes, Joel S. Parker, Matthew D. Wilkerson, Adrian Ally, Miruna Balasundaram, Reanne Bowlby, Denise Brooks, Rebecca Birch Carlsen, Eric Chuah, Noreen Dhalla, Robert A. Holt, Steven J.M. Jones, Darlene Lee, Yussanne Ma, Marco A. Marra, Michael L. Mayo, Richard A. Moore, Andrew J. J. Mungall, Karen L. Mungall, A. Gordon Robertson, Sara Sadeghi, Jacqueline E. Schein, Payal Sipahimalani, Angela Tam, Nina Thiessen, Kane Tse, Tina Tzee Ling Wong, Ashton C. Berger, Rameen Beroukhim, Andrew D. Cherniack, Carrie Cibulskis, Stacey L. Gabriel, Gavin Ha, Matthew M. Meyerson, Steven E. Schumacher, Juliann Shih, Melanie H. Kucherlapati, Raju Kucherlapati, Stephen Baylin, Leslie Cope, Ludmila Danilova, Moiz Bootwalla, Phillip H. Lai, Dennis T. Maglinte, David Van Den Berg, Daniel J. Weisenberger, J. Todd Auman, Saianand Balu, Tom Bodenheimer, Katherine A. Hoadley, Alan P. Hoyle, Corbin D. Jones, Shaowu Meng, Piotr A. Mieczkowski, Lisle E. Mose, Amy H. Perou, Charles M. Perou, Jeffrey M. Roach, Yan Shi, Janae V. Simons, Tara J. Skelly, Matthew G. Soloway, Donghui Tan, Umadevi Veluvolu, Huihui Fan, Toshinori Hinoue, Peter W. Laird, Hui Shen, Wanding Zhou, Michelle Bellair, Kyle Chang, Kyle R. Covington, Chad J. Creighton, Huyen Dinh, HarshaVardhan Doddapaneni, Lawrence A. Donehower, Jennifer Drummond, Richard A. Gibbs, Robert Glenn, Walker Hale, Yi Han, Hai Dong Hu, Viktoriya Korchina, Lora R Lewis, Wei Li, Xiuping Liu, Margaret Morgan, Donna Morton, Donna Marie Muzny, Jireh Santibanez, Margi Sheth, Eve Shinbrot, Linghua Wang, Min Wang, David A. Wheeler, Xi Liu, Fengmei Zhao, Julian M. Hess, Elizabeth L. Appelbaum, Matthew H. Bailey, Matthew G. Cordes, Li Ding, Catrina C. Fronick, Lucinda A. Fulton, Robert S. Fulton, Cyriac Kandoth, Elaine R. Mardis, Michael D. McLellan, Christopher A. Miller, Heather K. Schmidt, Richard K. Wilson, Daniel F. Crain, Erin E. Curley, Johanna Gardner, Kevin W. Lau, David W. Mallery, Scott J. Morris, Joseph D. Paulauskis, Robert James Penny, Candace Shelton, Troy Shelton, Mark E. Sherman, Eric M. Thompson, Peggy Yena, Jay Bowen, Julie M. Gastier‐Foster, Mark Gerken, Kristen Leraas, Tara M. Lichtenberg, Nilsa C. Ramirez, Lisa Wise, Erik J. Zmuda, Niall M. Corcoran, Tony Costello, Christopher M. Hovens, André Lopes Carvalho, Ana Carolina de Carvalho, José Humberto Tavares Guerreiro Fregnani, Adhemar Longatto‐Filho, Rui Manuel Reis, Cristovam Scapulatempo‐Neto, Henrique C.S. Silveira, Daniel Onofre Vidal, Andrew Burnette, Jennifer Eschbacher, Beth Hermes, Ardene Noss, Rosy Singh, Matthew Linley Anderson, Patricia D. Castro, Michael Ittmann, David George Huntsman, Bernard Kohl, Xuan Le, Richard Thorp, Chris Andry, Elizabeth R. Duffy, Vladimir Konstantinovich Lyadov, Oxana V. Paklina, Galiya R. Setdikova, Shabunin Av, Mikhail Mikhailovich Tavobilov, Christopher M. McPherson, Ronald E. Warnick, Ross Stuart Berkowitz, Daniel E. Cramer, Colleen M. Feltmate, Neil Stuart Horowitz, Adam Stuart Kibel, Michael George Muto, Chandrajit P. Raut, Andrei Malykh, Jill S. Barnholtz‐Sloan, Wendi Barrett, Karen Devine, Jordonna Fulop, Quinn T. Ostrom, Kristen Shimmel, Yingli Wolinsky, Andrew Edward Sloan, Agostino Maria De Rose, Felice Giuliante, Marc T. Goodman, Beth Y. Karlan, Curt H. Hagedorn, John A. Eckman, Jodi L. Harr, Jerome Myers, Kelinda Tucker, Leigh Anne Zach, Brenda Deyarmin, Leonid Kvecher, Caroline Larson, Richard Mural, Stella Somiari, Aleš Vícha, Tomáš Zelinka, Joseph Bennett, Mary Iacocca, Brenda Rabeno, Patricia Swanson, Mathieu Latour, Louis Lacombe, Bernard Têtu, Alain Bergeron, Mary McGraw, Susan M. Staugaitis, John A. Chabot, Hanina H. Hibshoosh, Antonia R. Sepulveda, Tao Su, Timothy Cragin Wang, Olga Potapova, Olga Voronina, Laurence Desjardins, Odette Mariani, Sergio Roman‐Roman, Xavier Sastre, Marc‐Henri Stern, Feixiong Cheng, Sabina Signoretti, Andrew Berchuck, Darell D. Bigner, Eric Lipp, Jeffrey R. Marks, Shannon Jones McCall, Roger E. McLendon, Angeles Alvarez Secord, Alexis Sharp, Madhusmita Behera, Daniel J. Brat, Amy Yen-Chi Chen, Keith A. Delman, Seth Daniel Force, Fadlo Raja Khuri, Kelly R. Magliocca, Shishir Kumar Maithel, Jeffrey J. Olson, Taofeek Kunle Owonikoko, Alan Pickens, Suresh S. Ramalingam, Dong Min Shin, Gabriel Sica, Erwin G. Van Meir, Hongzheng Zhang, Wil Eijckenboom, Ad Gillis, Esther Korpershoek, Leendert H. J. Looijenga, Wolter Oosterhuis, Hans Stoop, Kim E. van Kessel, Ellen C. Zwarthoff, Chiara Calatozzolo, Lucia Cuppini, Stefania Cuzzubbo, Francesco DiMeco, Gaetano Finocchiaro, Luca Mattei, Alessandro Perin, Bianca Pollo, Chen Chu, J. C. Houck, Pawadee Lohavanichbutr, Arndt Hartmann, Robert Stoehr, Helge W. Taubert, Sven Wach, Bernd Wullich, Witold Kycler, Dawid Murawa, Maciej Wiznerowicz, Ki Wung Chung, William Jeffrey Edenfield, Julie Martin, Éric Baudin, Glenn J. Bubley, Raphael Bueno, Assunta De Rienzo, William G. Richards, Steven N. Kalkanis, Tom Mikkelsen, Houtan Noushmehr, Lisa M. Scarpace, Nicolas Girard, Marta Aymerich, Elı́as Campo, Eva Giné, Armando López Guillermo, Nguyen Van Bang, Phan Thi Hanh, Bùi Đức Phú, Yufang Tang, Howard Colman, Kimberley Jane Evason, Peter Remsen Dottino, John A. Martignetti, Hani Gabra, Hartmut H. Juhl, Teniola Akeredolu, Serghei Stepa, Dave S.�B. Hoon, Keunsoo Ahn, Koo Jeong Kang, Felix Beuschlein, Anne Breggia, Michael J. Birrer, Debra Bell, Mitesh J. Borad, Alan Haruo Bryce, Erik P. Castle, Vishal Suresh Chandan, John C. Cheville, John Alton Copland, Michael B. Farnell, Thomas James Flotte, Nasra H. Giama, Thai Huu Ho, Michael L. Kendrick, Jean‐Pierre Kocher, Karla J. Kopp, Catherine D. Moser, David M. Nagorney, Daniel J. O’Brien, Brian Patrick O’Neill, Tushar C. Patel, Gloria M. Petersen, Florencia G. Que, Michael Rivera, Lewis Rowland Roberts, Robert C. Smallridge, Thomas C. Smyrk, Melissa Stanton, Robert Houston Thompson, Michael S Torbenson, Ju Dong Yang, Lizhi Zhang, Fadi Brimo, Jaffer A. Ajani, Ana Maria Angulo Gonzalez, Carmen Behrens, Jolanta E. Bondaruk, Russell R. Broaddus, Bogdan A. Czerniak, Bita Esmaeli, Junya Fujimoto, Charles Guo, Alexander J. Lazar, Christopher J. Logothetis, Funda Meric‐Bernstam, César A. Moran, Lois Michelle Ramondetta, David P. C. Rice, Anil K. Sood, Pheroze Tamboli, Timothy C. Thompson, Patricia Troncoso, Anne S. Tsao, Ignacio Wistuba, Candace Carter, Lauren Elaine Haydu, Peter Hersey, Valerie Jakrot, Hojabr Kakavand, Richard F. Kefford, Kenneth Maan Liong Lee, Georgina Venetia Long, Graham J. Mann, Michael A. Quinn, Robyn P.M. Saw, Richard A. Scolyer, Kerwin Frank Shannon, Andrew John Spillane, Jonathan R. Stretch, Maria Synott, John F. Thompson, James S. Wilmott, Hikmat A Al‐Ahmadie, Timothy An-thy Chan, Ronald A. Ghossein, Anuradha Gopalan, Douglas A. Levine, Victor Reuter, Samuel Singer, Bhuvanesh Singh, Nguyen Viet Tien, Thomas B. Broudy, Cyrus Mirsaidi, Praveen P. Nair, Paul Drwiega, Judy Miller, Jennifer R. Smith, Howard A. Zaren, Joong‐Won Park, Nguyễn Phi Hùng, Electron Kebebew, William Marston Linehan, Adam R. Metwalli, Karel Pacák, Peter A. Pinto, Mark Schiffman, Laura S. Schmidt, Cathy D. Vocke, Nicolas Wentzensen, Robert Worrell, Hannah Yang, Marc D. Moncrieff, Chandra M. V. Goparaju, Jonathan Melamed, Harvey Ira Pass, Natalia Botnariuc, Irina Caraman, Mircea Cernat, Inga Chemencedji, Adrian Clipca, Serghei Doruc, Ghenadie Gorincioi, Sergiu Mura, Maria Pirtac, Irina Stancul, Diana Tcaciuc, Monique Albert, Iakovina Alexopoulou, Angel Arnaout, John M.S. Bartlett, Jay Engel, Sébastien Gilbert, Jeremy R. Parfitt, Harman S. Sekhon, GEORGE V. THOMAS, Doris M. Rassl, Robert Campbell Rintoul, Carlo Bruno Bifulco, Raina Tamakawa, Walter John Urba, Nicholas K. Hayward, Henri Timmers, Anna Antenucci, Francesco Facciolo, Gian Luca Grazi, Mirella Marino, Roberta Merola, Ronald R. de Krijger, Anne‐Paule Gimenez‐Roqueplo, Alain Piché, Simone Chevalier, Ginette McKercher, Kıvanç Birsoy, Gene H. Barnett, Cathy J. Brewer, Carol F. Farver, Theresa Naska, Nathan A. Pennell, Daniel Philip Raymond, Cathy Schilero, Kathy N. Smolenski, Quaid Morris, Jeffrey Allen Borgia, Mark D. Pool, Christopher William Seder, Kerstin Junker, Larsson Omberg, Mikhail Dinkin, George M. Manikhas, Domenico Alvaro, Maria Consiglia Bragazzi, Vincenzo Cardinale, Guido Carpino, Eugenio Gaudio, David W. Chesla, Sandra L. Cottingham, Michael Dubina, Fedor Vladimirovich Moiseenko, Renumathy Dhanasekaran, Karl‐Friedrich Becker, Klaus‐Peter Janssen, Julia Slotta‐Huspenina, Mohamed H. Abdel‐Rahman, Dina Aziz, Sue Ellen Bell, Colleen M. Cebulla, Amy Davis, Rebecca Duell, James Bradley Elder, Joe Hilty, Bahavna Kumar, James C. Lang, Norman L. Lehman, Randy Mandt, Phuong L. Nguyen, Robert Pilarski, Karan Rai, Lynn R. Schoenfield, Kelly Senecal, Paul E. Wakely, Paul Hansen, Ronald Michael Lechan, James F. Powers, Arthur S. Tischler, William E. Grizzle, Katherine C. Sexton, Alison Kastl, Joel Henderson, Sima P. Porten, Jens Waldmann, Martin Faßnacht, Sylvia L. Asa, Dirk Schadendorf, Marta Couce, Markus Graefen, Hartwig Huland, Guido Sauter, Thorsten Schlomm, Ronald Simon, Pierre Tennstedt, Oluwole Olabode, Mark A. Nelson, Oliver F. Bathe, Peter R. Carroll, June M. Chan, Philip John DiSaia, Pat Glenn, Robin Kate Kelley, Charles N. Landen, Joanna J. Phillips, Michael Prados, Jeffry Simko, Karen Smith‐McCune, Scott R. VandenBerg, Kevin King Roggin, Ashley Fehrenbach, Ady Kendler, Suzanne Sifri, Ruth Steele, Antonio Jimeno, Francis A. Carey, Ian M. Forgie, Massimo Mannelli, Michael E. Carney, Brenda Hernandez, Benito Campos, Christel C. Herold‐Mende, Christin Jungk, Andreas Wilhelm Unterberg, Andreas von Deimling, Aaron Bossler, Joseph Galbraith, Laura Jacobus, Michael C. Knudson, Tina M. Knutson, Deqin Ma, Mohammed M. Milhem, Rita D. Sigmund, Andrew K. Godwin, Rashna Madan, Howard G. Rosenthal, Clement Adebamowo, Sally Nneoma Adebamowo, Alex Boussioutas, David G. Beer, Thomas J. Giordano, Anne‐Marie Mes‐Masson, Fred Saad, Therese J. Bocklage, Lisa Michelle Landrum, Robert S. Mannel, Kathleen Moore, Katherine Marie Moxley, Russel G. Postier, Joan L. Walker, Rosemary E. Zuna, Michael D. Feldman, Federico Valdivieso, Rajiv Dhir, James D. Luketich, Edna M. Mora Pinero, Mario Quintero-Aguilo, Carlos Gilberto Carlotti, José Sebastião dos Santos, Rafael Kemp, Ajith Kumar Sankarankuty, Daniela Pretti da Cunha Tirapelli, James W.F. Catto, Kathy J. Agnew, Elizabeth M. Swisher, Jenette Creaney, Bruce W. S. Robinson, Carl Simon Shelley, Eryn M. Godwin, Sara Kendall, Cassaundra Shipman, Carol Rossier Bradford, Thomas E. Carey, Jeffey Moyer, Lisa A. Peterson, Mark E. Prince, Laura S. Rozek, Gregory T. Wolf, Rayleen Bowman, Kwun Meng Fong, Ian A. Yang, Robert J. Korst, W. Kimryn Rathmell, J. Leigh Fantacone-Campbell, Jeffrey A. Hooke, Albert J. Kovatich, Craig D. Shriver, John F. DiPersio, Bettina F. Drake, Ramaswamy Govindan, Sharon E. Heath, Timothy James Ley, Brian Andrew Van Tine, Peter Westervelt, Mark Andrew Rubin, Jung Il Lee, Natália D. Aredes, Armaz Mariamidze, Silvia Buonamici, Lihua Yu
482Citations signalées, ce qui n’est pas une note de qualité
0Institutions déclarées
0Pays d’affiliation déclarés
Le résumé fourni par la source
Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer. We analyzed whole-exome sequencing data across 33 tumor types in The Cancer Genome Atlas (TCGA), and we identified 119 splicing factor genes with significant non-silent mutation patterns, including mutation over-representation, recurrent loss of function (tumor suppressor-like), or hotspot mutation profile (oncogene-like). Furthermore, RNA sequencing analysis revealed altered splicing events associated with selected splicing factor mutations. In addition, we were able to identify common gene pathway profiles associated with the presence of these mutations. Our analysis suggests that somatic alteration of genes involved in the RNA-splicing process is common in cancer and may represent an underappreciated hallmark of tumorigenesis.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types
- Date Crossref
- 01/04/2018
- Éditeur
- Elsevier BV
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les sujets associés
RNA Research and SplicingRNA modifications and cancerCancer Genomics and Diagnostics