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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:	BIBFORM096045
035-os BibID:	(cikkazonosító)1749 (WoS)000631928500006 (Scopus)85102687135
Első szerző:	Skowron, Patryk
Cím:	The transcriptional landscape of Shh medulloblastoma / Patryk Skowron, Hamza Farooq, Florence M. G. Cavalli1, A. Sorana Morrissy, Michelle Ly, Liam D. Hendrikse, Evan Y. Wang, Haig Djambazian, Helen Zhu, Karen L. Mungall, Quang M. Trinh, Tina Zheng, Shizhong Dai, Ana S. Guerreiro Stucklin, Maria C. Vladoiu, Vernon Fong, Borja L. Holgado, Carolina Nor, Xiaochong Wu, Diala Abd-Rabbo, Pierre Bérubé, Yu Chang Wang, Betty Luu, Raul A. Suarez, Avesta Rastan, Aaron H. Gillmor, John J. Y. Lee, Xiao Yun Zhang, Craig Daniels, Peter Dirks, David Malkin, Eric Bouffet, Uri Tabori, James Loukides, François P. Doz, Franck Bourdeaut, Olivier O. Delattre, Julien Masliah-Planchon, Olivier Ayrault, Seung-Ki Kim, David Meyronet, Wieslawa A. Grajkowska, Carlos G. Carlotti, Carmen de Torres, Jaume Mora, Charles G. Eberhart, Erwin G. Van Meir, Toshihiro Kumabe, Pim J. French, Johan M. Kros, Nada Jabado, Boleslaw Lach, Ian F. Pollack, Ronald L. Hamilton, Amulya A. Nageswara Rao, Caterina Giannini, James M. Olson, László Bognár, Almos Klekner, Karel Zitterbart, Joanna J. Phillips, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Linda M. Liau, Miklós Garami, Peter Hauser, Kay Ka Wai Li, Ho-Keung Ng, Wai Sang Poon, G. Yancey Gillespie, Jennifer A. Chan, Shin Jung, Roger E. McLendon, Eric M. Thompson, David Zagzag, Rajeev Vibhakar, Young Shin Ra, Maria Luisa Garre, Ulrich Schüller, Tomoko Shofuda, Claudia C. Faria, Enrique López-Aguilar, Gelareh Zadeh, Chi-Chung Hui, Vijay Ramaswamy, Swneke D. Bailey, Steven J. Jones, Andrew J. Mungall, Richard A. Moore, John A. Calarco, Lincoln D. Stein, Gary D. Bader, Jüri Reimand, Jiannis Ragoussis, William A. Weiss, Marco A. Marra, Hiromichi Suzuki, Michael D. Taylor
Dátum:	2021
ISSN:	2041-1723
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Nature Communications. - 12 : 1 (2021), p. 1-17. -
További szerzők:	Farooq, Hamza Cavalli, Florence M. G. Morrissy, Sorana Ly, Michelle Hendrikse, Liam D. Wang, Evan Y. Djambazian, Haig Zhu, Helen Mungall, Karen L. Trinh, Quang M. Zheng, Tina Dai, Shizhong Stucklin, Ana S. Guerreiro Vladoiu, Maria C. Fong, Vernon Holgado, Borja L. Nor, Carolina Wu, Xiaochong Abd-Rabbo, Diala Berube, Pierre Wang, Yu Chang Luu, Betty Suarez, Raul A. Rastan, Avesta Gillmor, Aaron H. Lee, John J. Y. Zhang, Xiao Yun Daniels, Craig Dirks, Peter Malkin, David Bouffet, Eric Tabori, Uri Loukides, James Doz, François P. Bourdeaut, Franck Delattre, Olivier Masliah-Planchon, Julien Ayrault, Olivier Kim, Seung-Ki Meyronet, David Grajkowska, Wieslawa A. Carlotti, Carlos G. Torres, Carmen, de Mora, Jaume Eberhart, Charles G. van Meir, Erwin G. Kumabe, Toshihiro French, Pim J. Kros, Johan M. Jabado, Nada Lach, Boleslaw Pollack, Ian F. Hamilton, Ronald L. Rao, Amulya A. Nageswara Giannini, Caterina Olson, James M. Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) Zitterbart, Karel Phillips, Joanna J. Thompson, Reid C. Cooper, Michael K. Rubin, Joshua B. Liau, Linda M. Garami Miklós Hauser, Peter Li, Kay Ka Wai Ng, Ho-Keung Poon, Wai Sang Yancey Gillespie, G. Chan, Jennifer A. Jung, Shin McLendon, Roger E. Thompson, Eric M. Zagzag, David Vibhakar, Rajeev Shin Ra, Young Garre, Maria Luisa Schüller, Ulrich Shofuda, Tomoko Faria, Claudia C. Lopez-Aguilar, Enrique Zadeh, Gelareh Hui, Chi-chung Ramaswamy, Vijay Bailey, Swneke D. Jones, Steven J. M. Mungall, Andrew J. Moore, Richard A. Calarco, John A. Stein, Lincoln Bader, Gary D. Reimand, Jüri Ragoussis, Jiannis Weiss, William A. Marra, Marco A. Suzuki, Hiromichi Taylor, Michael D.
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