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1.
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.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
2.
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
Intézményi repozitóriumban (DEA) tárolt változat
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