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001-es BibID:BIBFORM052708
035-os BibID:WOS:000327100500011
Első szerző:Remke, Marc
Cím:TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma / Marc Remke, Vijay Ramaswamy, John Peacock, David J. H. Shih, Christian Koelsche, Paul A. Northcott, Nadia Hill, Florence M. G. Cavalli, Marcel Kool, Xin Wang, Stephen C. Mack, Mark Barszczyk, A. Sorana Morrissy, Xiaochong Wu, Sameer Agnihotri, Betty Luu, David T. W. Jones, Livia Garzia, Adrian M. Dubuc, Nataliya Zhukova, Robert Vanner, Johan M. Kros, Pim J. French, Erwin G. Van Meir, Rajeev Vibhakar, Karel Zitterbart, Jennifer A. Chan, László Bognár, Almos Klekner, Boleslaw Lach, Shin Jung, Ali G. Saad, Linda M. Liau, Steffen Albrecht, Massimo Zollo, Michael K. Cooper, Reid C. Thompson, Oliver O. Delattre, Franck Bourdeaut, François F. Doz, Miklós Garami, Peter Hauser, Carlos G. Carlotti, Timothy E. Van Meter, Luca Massimi, Daniel Fults, Scott L. Pomeroy, Toshiro Kumabe, Young Shin Ra, Jeffrey R. Leonard, Samer K. Elbabaa, Jaume Mora, Joshua B. Rubin, Yoon-Jae Cho, Roger E. McLendon, Darell D. Bigner, Charles G. Eberhart, Maryam Fouladi, Robert J. Wechsler-Reya, Claudia C. Faria, Sidney E. Croul, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, Peter B. Dirks, William A. Weiss, Ulrich Schüller, Ian F. Pollack, Stefan Rutkowski, David Meyronet, Anne Jouvet, Michelle Fèvre-Montange, Nada Jabado, Marta Perek-Polnik, Wieslawa A. Grajkowska, Seung-Ki Kim, James T. Rutka, David Malkin, Uri Tabori, Stefan M. Pfister, Andrey Korshunov, Andreas von Deimling, Michael D. Taylor
Dátum:2013
ISSN:0001-6322
Megjegyzések:Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in <5 % of cases and showed no association with increased patient age. The prognostic implications of these mutations were highly subgroup-specific. TERT mutations identified a subset with good and poor prognosis in SHH and Group 4 tumors, respectively. Monosomy 6 was mostly restricted to WNT tumors without TERT mutations. Hallmark SHH focal copy number aberrations and chromosome 10q deletion were mutually exclusive with TERT mutations within SHH tumors. TERT promoter mutations are the most common recurrent somatic point mutation in medulloblastoma, and are very highly enriched in adult SHH and WNT tumors. TERT mutations define a subset of SHH medulloblastoma with distinct demographics, cytogenetics, and outcomes.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Acta Neuropathologica 126 : 6 (2013), p. 917-929. -
További szerzők:Ramaswamy, Vijay Peacock, John Shih, David J. H. Koelsche, Christian Northcott, Paul A. Hill, Nadia Cavalli, Florence M. G. Kool, Marcel Wang, Xin Mack, Stephen Barszczyk, Mark Morrissy, Sorana Wu, Xiaochong Agnihotri, Sameer Luu, Betty Jones, David T. W. Garzia, Livia Dubuc, Adrian Zhukova, Nataliya Vanner, Robert Kros, Johan M. French, Pim J. van Meir, Erwin G. Vibhakar, Rajeev Zitterbart, Karel Chan, Jennifer A. Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) Lach, Boleslaw Jung, Shin Saad, Ali G. Liau, Linda M. Albrecht, Stephen Zollo, Massimo Cooper, Michael K. Thompson, Reid C. Delattre, Olivier Bourdeaut, Franck Doz, François F. Garami Miklós Hauser Péter Carlotti, Carlos G. van Meter, Timothy E. Massimi, Luca Fults, Daniel Pomeroy, Scott L. Kumabe, Toshihiro Shin Ra, Young Leonard, Jeffrey R. Elbabaa, Samer K. Mora, Jaume Rubin, Joshua B. Cho, Yoon-Jae McLendon, Roger E. Bigner, Darell Eberhart, Charles G. Fouladi, Maryam Wechsler-Reya, Robert J. Faria, Claudia C. Croul, Sidney E. Huang, Annie Bouffet, Eric Hawkins, Cynthia E. Dirks, Peter Weiss, William A. Schüller, Ulrich Pollack, Ian F. Rutkowski, Stefan Meyronet, David Jouvet, Anne Fèvre-Montange, Michelle Jabado, Nada Perek-Polnik, Marta Grajkowska, Wieslawa A. Kim, Seung-Ki Rutka, James T. Malkin, David Tabori, Uri Pfister, Stefan M. Korshunov, Andrey von Deimling, Andreas Taylor, Michael D.
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001-es BibID:BIBFORM066682
Első szerző:Torchia, Jonathon
Cím:Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors / Torchia Jonathon, Golbourn Brian, Feng Shengrui, Ho King Ching, Sin-Chan Patrick, Vasiljevic Alexandre, Norman Joseph D., Guilhamon Paul, Garzia Livia, Agamez Natalia R., Lu Mei, Chan Tiffany S. Y., Picard Daniel, de Antonellis Pasqualino, Khuong-Quang Dong-Anh, Planello Aline C., Zeller Constanze, Barsyte-Lovejoy Dalia, Lafay-Cousin Lucie, Letourneau Louis, Bourgey Mathieu, Yu Man, Gendoo Deena M. A., Dzamba Misko, Barszczyk Mark, Medina Tiago, Riemenschneider Alexandra N., Morrissy A. Sorana, Ra Young-Shin, Ramaswamy Vijay, Remke Marc, Dunham Christopher P., Yip Stephen, Ng Ho-keung, Lu Jian-Qiang, Mehta Vivek, Albrecht Steffen, Pimentel Jose, Chan Jennifer A., Somers Gino R., Faria Claudia C., Roque Lucia, Fouladi Maryam, Hoffman Lindsey M., Moore Andrew S., Wang Yin, Choi Seung Ah, Hansford Jordan R., Catchpoole Daniel, Birks Diane K., Foreman Nicholas K., Strother Doug, Klekner Almos, Bognár Laszló, Garami Miklós, Hauser Péter, Hortobágyi Tibor, Wilson Beverly, Hukin Juliette, Carret Anne-Sophie, Van Meter Timothy E., Hwang Eugene I., Gajjar Amar, Chiou Shih-Hwa, Nakamura Hideo, Toledano Helen, Fried Iris, Fults Daniel, Wataya Takafumi, Fryer Chris, Eisenstat David D., Scheineman Katrin, Fleming Adam J., Johnston Donna L., Michaud Jean, Zelcer Shayna, Hammond Robert, Afzal Samina, Ramsay David A., Sirachainan Nongnuch, Hongeng Suradej, Larbcharoensub Noppadol, Grundy Richard G., Lulla Rishi R., Fangusaro Jason R., Druker Harriet, Bartels Ute, Grant Ronald, Malkin David, McGlade C. Jane, Nicolaides Theodore, Tihan Tarik, Phillips Joanna, Majewski Jacek, Montpetit Alexandre, Bourque Guillaume, Bader Gary D., Reddy Alyssa T., Gillespie G. Yancey, Warmuth-Metz Monika, Rutkowski Stefan, Tabori Uri, Lupien Mathieu, Brudno Michael, Schüller Ulrich, Pietsch Torsten, Judkins Alexander R., Hawkins Cynthia E., Bouffet Eric, Kim Seung-Ki, Dirks Peter B., Taylor Michael D., Erdreich-Epstein Anat, Arrowsmith Cheryl H., De Carvalho Daniel D., Rutka James T., Jabado Nada, Huang Annie
Dátum:2016
ISSN:1535-6108
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Cancer Cell 30 : 6 (2016), p. 891-908. -
További szerzők:Golbourn, Brian Feng, Shengrui Ho, King Ching Sin-Chan, Patrick Vasiljevic, Alexandre Norman, Joseph D. Guilhamon, Paul Garzia, Livia Agamez, Natalia R. Lu, Mei Chan, Tiffany Sin Yu Picard, Daniel De Antonellis, Pasqualino Khuong-Quang, Dong-Anh Planello, Aline C. Zeller, Constanze Barsyte-Lovejoy, Dalia Lafay-Cousin, Lucie Letourneau, Louis Bourgey, Mathieu Yu, Man Gendoo, Deena M. A. Dzamba, Misko Barszczyk, Mark Medina, Tiago Riemenschneider, Alexandra N. Morrissy, Sorana Ra, Young-Shin Ramaswamy, Vijay Remke, Marc Dunham, Christopher P. Yip, Stephen Ng, Ho-Keung Lu, Jian-Qiang Mehta, Vivek Albrecht, Stephen Pimentel, José Chan, Jennifer A. Somers, Gino R. Faria, Claudia C. Roque, Lucia Fouladi, Maryam Hoffman, Lindsey M. Moore, Andrew S. Wang, Yin Choi, Seung Ah Hansford, Jordan R. Catchpoole, Daniel Birks, Diane Foreman, Nicholas K. Strother, Douglas Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Garami Miklós Hauser Péter Hortobágyi Tibor (1965-) (patológus) Wilson, Beverly Hukin, Juliette Carret, Anne-Sophie van Meter, Timothy E. Hwang, Eugene Gajjar, Amar Chiou, Shih-Hwa Nakamura, Hideo Toledano, Helen Fried, Iris Fults, Daniel Wataya, Takafumi Fryer, Chris Eisenstat, David D. Scheineman, Katrin Fleming, Adam Johnston, Donna Michaud, Jean Zelcer, Shayna Hammond, Robert Afzal, Samina Ramsay, David A. Sirachainan, Nongnuch Hongeng, Suradej Larbcharoensub, Noppadol Grundy, Richard G. Lulla, Rishi R. Fangusaro, Jason R. Druker, Harriet Bartels, Ute Grant, Ronald Malkin, David McGlade, C. Jane Nicolaides, Theodore Tihan, Tarik Phillips, Joanna J. Majewski, Jacek Montpetit, Alexandre Bourque, Guillaume Bader, Gary D. Reddy, Alyssa T. Gillespie, G. Yancey Warmuth-Metz, Monika Rutkowski, Stefan Tabori, Uri Lupien, Mathieu Brudno, Michael Schüller, Ulrich Pietsch, Torsten Judkins, Alexander R. Hawkins, Cynthia E. Bouffet, Eric Kim, Seung-Ki Dirks, Peter Taylor, Michael D. Erdreich-Epstein, Anat Arrowsmith, Cheryl H. De Carvalho, Daniel D. Rutka, James T. Jabado, Nada Huang, Annie
Internet cím:DOI
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