Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Marcel Martin,Marcel Martin,Lars Maßhöfer,Petra Temming,Sven Rahmann,Claudia H D Metz,Norbert Bornfeld,Johannes van de Nes,Ludger Klein-Hitpass,Alan G. Hinnebusch,Bernhard Horsthemke,Dietmar R. Lohmann,Michael Zeschnigk +12 more
TLDR
Using exome sequencing, recurrent somatic mutations in EIF1AX and SF3B1 are identified occurring in uveal melanomas with disomy 3, which rarely metastasize and are associated with poor prognosis.Abstract:
Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations.read more
Citations
More filters
Journal ArticleDOI
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
Daniel J. Brat,Roel G.W. Verhaak,Kenneth Aldape,W. K. Alfred Yung,Sofie R. Salama,Lee Cooper,Esther Rheinbay,C. Ryan Miller,Mark Vitucci,Olena Morozova,A. Gordon Robertson,Houtan Noushmehr,Peter W. Laird,Andrew D. Cherniack,Rehan Akbani,Jason T. Huse,Giovanni Ciriello,Laila M. Poisson,Jill S. Barnholtz-Sloan,Mitchel S. Berger,Cameron Brennan,Rivka R. Colen,Howard Colman,Adam E. Flanders,Caterina Giannini,Mia Grifford,Antonio Iavarone,Rajan Jain,Isaac Joseph,Jaegil Kim,Katayoon Kasaian,Tom Mikkelsen,Bradley A. Murray,Brian P. O'Neill,Lior Pachter,Donald W. Parsons,Carrie Sougnez,Erik P. Sulman,Scott R. VandenBerg,Erwin G. Van Meir,Andreas von Deimling,Hailei Zhang,Daniel Crain,Kevin Lau,David Mallery,Scott Morris,Joseph Paulauskis,Robert Penny,Troy Shelton,Mark E. Sherman,Peggy Yena,Aaron D. Black,Jay Bowen,Katie Dicostanzo,Julie M. Gastier-Foster,Kristen M. Leraas,Tara M. Lichtenberg,Christopher R. Pierson,Nilsa C. Ramirez,Cynthia Taylor,Stephanie Weaver,Lisa Wise,Erik Zmuda,Tanja M. Davidsen,John A. Demchok,Greg Eley,Martin L. Ferguson,Carolyn M. Hutter,Kenna R. Mills Shaw,Bradley A. Ozenberger,Margi Sheth,Heidi J. Sofia,Roy Tarnuzzer,Zhining Wang,Liming Yang,Jean C. Zenklusen,Brenda Ayala,Julien Baboud,Sudha Chudamani,Mark A. Jensen,Jia Liu,Todd Pihl,Rohini Raman,Yunhu Wan,Ye Wu,Adrian Ally,J. Todd Auman,Miruna Balasundaram,Saianand Balu,Stephen B. Baylin,Rameen Beroukhim,Moiz S. Bootwalla,Reanne Bowlby,Christopher A. Bristow,Denise Brooks,Yaron S.N. Butterfield,Rebecca Carlsen,Scott L. Carter,Lynda Chin,Andy Chu,Eric Chuah,Kristian Cibulskis,Amanda Clarke,Simon G. Coetzee,Noreen Dhalla,Timothy R. Fennell,Sheila A. Fisher,Stacey Gabriel,Gad Getz,Richard A. Gibbs,Ranabir Guin,Angela Hadjipanayis,D. Neil Hayes,Toshinori Hinoue,Katherine A. Hoadley,Robert A. Holt,Alan P. Hoyle,Stuart R. Jefferys,Steven J.M. Jones,Corbin D. Jones,Raju Kucherlapati,Phillip H. Lai,Eric S. Lander,Semin Lee,Lee Lichtenstein,Yussanne Ma,Dennis T. Maglinte,Harshad S. Mahadeshwar,Marco A. Marra,Michael Mayo,Shaowu Meng,Matthew Meyerson,Piotr A. Mieczkowski,Richard A. Moore,Lisle E. Mose,Andrew J. Mungall,Angeliki Pantazi,Michael Parfenov,Peter J. Park,Joel S. Parker,Charles M. Perou,Alexei Protopopov,Xiaojia Ren,Jeffrey Roach,Thais S. Sabedot,Jacqueline E. Schein,Steven E. Schumacher,Jonathan G. Seidman,Sahil Seth,Hui Shen,Janae V. Simons,Payal Sipahimalani,Matthew G. Soloway,Xingzhi Song,Huandong Sun,Barbara Tabak,Angela Tam,Donghui Tan,Jiabin Tang,Nina Thiessen,Timothy J. Triche,David Van Den Berg,Umadevi Veluvolu,Scot Waring,Daniel J. Weisenberger,Matthew D. Wilkerson,Tina Wong,Junyuan Wu,Liu Xi,Andrew Wei Xu,Lixing Yang,Travis I. Zack,Jianhua Zhang,B. Arman Aksoy,Harindra Arachchi,Chris Benz,Brady Bernard,Daniel E. Carlin,Juok Cho,Daniel DiCara,Scott Frazer,Gregory N. Fuller,Jianjiong Gao,Nils Gehlenborg,David Haussler,David I. Heiman,Lisa Iype,Anders Jacobsen,Zhenlin Ju,Sol Katzman,Hoon Kim,Theo A. Knijnenburg,Richard Kreisberg,Michael S. Lawrence,William M. Lee,Kalle Leinonen,Pei Lin,Shiyun Ling,Wen-Bin Liu,Yingchun Liu,Yuexin Liu,Yiling Lu,Gordon B. Mills,Sam Ng,Michael S. Noble,Evan O. Paull,Arvind Rao,Sheila Reynolds,Gordon Saksena,Zack Sanborn,Chris Sander,Nikolaus Schultz,Yasin Senbabaoglu,Ronglai Shen,Ilya Shmulevich,Rileen Sinha,Josh Stuart,S. Onur Sumer,Yichao Sun,Natalie Tasman,Barry S. Taylor,Doug Voet,Nils Weinhold,John N. Weinstein,Da Yang,Kosuke Yoshihara,Siyuan Zheng,Wei Zhang,Lihua Zou,Ty Abel,Sara Sadeghi,Mark L. Cohen,Jenny Eschbacher,Eyas M. Hattab,Aditya Raghunathan,Matthew Schniederjan,Dina Aziz,Gene Barnett,Wendi Barrett,Darell D. Bigner,Lori Boice,Cathy Brewer,Chiara Calatozzolo,Benito Campos,Carlos Gilberto Carlotti,Timothy A. Chan,Lucia Cuppini,Erin Curley,Stefania Cuzzubbo,Karen Devine,Francesco DiMeco,Rebecca Duell,J. Bradley Elder,Ashley Fehrenbach,Gaetano Finocchiaro,William A. Friedman,Jordonna Fulop,Johanna Gardner,Beth Hermes,Christel Herold-Mende,Christine Jungk,Ady Kendler,Norman L. Lehman,Eric S. Lipp,Ouida Liu,Randy Mandt,Mary McGraw,Roger E. McLendon,Christopher M. McPherson,Luciano Neder,Phuong L. Nguyen,Ardene Noss,Raffaele Nunziata,Quinn T. Ostrom,Cheryl A. Palmer,Alessandro Perin,Bianca Pollo,Alexander Potapov,Olga Potapova,W. Kimryn Rathmell,D L Rotin,Lisa Scarpace,Cathy Schilero,Kelly Senecal,Kristen Shimmel,Vsevolod Shurkhay,Suzanne Sifri,Rosy Singh,Andrew E. Sloan,Kathy Smolenski,Susan M. Staugaitis,Ruth Steele,Leigh B. Thorne,Daniela Pretti da Cunha Tirapelli,Andreas Unterberg,Mahitha Vallurupalli,Yun Wang,Ronald E. Warnick,Felicia Williams,Yingli Wolinsky,Sue E. Bell,Mara Rosenberg,Chip Stewart,Franklin W. Huang,Jonna Grimsby,Amie Radenbaugh,Jianan Zhang +306 more
TL;DR: The integration of genomewide data from multiple platforms delineated three molecular classes of lower-grade gliomas that were more concordant with IDH, 1p/19q, and TP53 status than with histologic class.
Journal ArticleDOI
Integrated Genomic Characterization of Papillary Thyroid Carcinoma
Nishant Agrawal,Rehan Akbani,B. Arman Aksoy,Adrian Ally,Harindra Arachchi,Sylvia L. Asa,J. Todd Auman,Miruna Balasundaram,Saianand Balu,Stephen B. Baylin,Madhusmita Behera,Brady Bernard,Rameen Beroukhim,Justin A. Bishop,Aaron D. Black,Tom Bodenheimer,Lori Boice,Moiz S. Bootwalla,Jay Bowen,Reanne Bowlby,Christopher A. Bristow,Robin Brookens,Denise Brooks,Robert Bryant,Elizabeth Buda,Yaron S.N. Butterfield,Tobias Carling,Rebecca Carlsen,Scott L. Carter,Sally E. Carty,Timothy A. Chan,Amy Chen,Andrew D. Cherniack,Dorothy Cheung,Lynda Chin,Juok Cho,Andy Chu,Eric Chuah,Kristian Cibulskis,Giovanni Ciriello,Amanda Clarke,Gary L. Clayman,Leslie Cope,John A. Copland,Kyle R. Covington,Ludmila Danilova,Tanja Davidsen,John A. Demchok,Daniel DiCara,Noreen Dhalla,Rajiv Dhir,Sheliann S. Dookran,Gideon Dresdner,Jonathan V. Eldridge,Greg Eley,Adel K El-Naggar,Stephanie Eng,James A. Fagin,Timothy R. Fennell,Robert L. Ferris,Sheila Fisher,Scott Frazer,Jessica Frick,Stacey Gabriel,Ian Ganly,Jianjiong Gao,Levi A. Garraway,Julie M. Gastier-Foster,Gad Getz,Nils Gehlenborg,Ronald Ghossein,Richard A. Gibbs,Thomas J. Giordano,Karen Gomez-Hernandez,Jonna Grimsby,Benjamin Gross,Ranabir Guin,Angela Hadjipanayis,Hollie A. Harper,D. Neil Hayes,David I. Heiman,James G. Herman,Katherine A. Hoadley,Matan Hofree,Robert A. Holt,Alan P. Hoyle,Franklin W. Huang,Mei Huang,Carolyn M. Hutter,Trey Ideker,Lisa Iype,Anders Jacobsen,Stuart R. Jefferys,Corbin D. Jones,Steven J.M. Jones,Katayoon Kasaian,Electron Kebebew,Fadlo R. Khuri,Jaegil Kim,Roger Kramer,Richard Kreisberg,Raju Kucherlapati,David J. Kwiatkowski,Marc Ladanyi,Phillip H. Lai,Peter W. Laird,Eric S. Lander,Michael S. Lawrence,Darlene Lee,Eunjung Lee,Semin Lee,William Lee,Kristen M. Leraas,Tara M. Lichtenberg,Lee Lichtenstein,Pei Lin,Shiyun Ling,Jinze Liu,Wen-Bin Liu,Yingchun Liu,Virginia A. LiVolsi,Yiling Lu,Yussanne Ma,Harshad S. Mahadeshwar,Marco A. Marra,Michael Mayo,David G. McFadden,Shaowu Meng,Matthew Meyerson,Piotr A. Mieczkowski,Michael L. Miller,Gordon B. Mills,Richard A. Moore,Lisle E. Mose,Andrew J. Mungall,Bradley A. Murray,Yuri E. Nikiforov,Michael S. Noble,Akinyemi I. Ojesina,Taofeek K. Owonikoko,Bradley A. Ozenberger,Angeliki Pantazi,Michael Parfenov,Peter J. Park,Joel S. Parker,Evan O. Paull,Chandra Sekhar Pedamallu,Charles M. Perou,Jan F. Prins,Alexei Protopopov,Suresh Ramalingam,Nilsa C. Ramirez,Ricardo Ramirez,Benjamin J. Raphael,W. Kimryn Rathmell,Xiaojia Ren,Sheila Reynolds,Esther Rheinbay,Matthew D. Ringel,Michael Rivera,Jeffrey Roach,A. Gordon Robertson,Mara Rosenberg,Matthew Rosenthal,Sara Sadeghi,Gordon Saksena,Chris Sander,Netty Santoso,Jacqueline E. Schein,Nikolaus Schultz,Steven E. Schumacher,Raja R. Seethala,Jonathan G. Seidman,Yasin Senbabaoglu,Sahil Seth,Samantha Sharpe,Kenna R. Mills Shaw,John Paul Shen,Ronglai Shen,Steven I. Sherman,Margi Sheth,Yan Shi,Ilya Shmulevich,Gabriel Sica,Janae V. Simons,Rileen Sinha,Payal Sipahimalani,Robert C. Smallridge,Heidi J. Sofia,Matthew G. Soloway,Xingzhi Song,Carrie Sougnez,Chip Stewart,Petar Stojanov,Joshua M. Stuart,S. Onur Sumer,Yichao Sun,Barbara Tabak,Angela Tam,Donghui Tan,Jiabin Tang,Roy Tarnuzzer,Barry S. Taylor,Nina Thiessen,Leigh B. Thorne,Vesteinn Thorsson,R. Michael Tuttle,Christopher B. Umbricht,David Van Den Berg,Fabio Vandin,Umadevi Veluvolu,Roeland Verhaak,Michelle Vinco,Doug Voet,Vonn Walter,Zhining Wang,Scot Waring,Paul M. Weinberger,Nils Weinhold,John N. Weinstein,Daniel J. Weisenberger,David A. Wheeler,Matthew D. Wilkerson,Jocelyn Wilson,Michelle D. Williams,Daniel A. Winer,Lisa Wise,Junyuan Wu,Liu Xi,Andrew Wei Xu,Liming Yang,Lixing Yang,Travis I. Zack,Martha A. Zeiger,Dong Zeng,Jean C. Zenklusen,Ni Zhao,Hailei Zhang,Jianhua Zhang,Jiashan Zhang,Wei Zhang,Erik Zmuda,Lihua Zou +242 more
TL;DR: The genomic landscape of 496 PTCs is described and a reclassification of thyroid cancers into molecular subtypes that better reflect their underlying signaling and differentiation properties is proposed, which has the potential to improve their pathological classification and better inform the management of the disease.
Journal ArticleDOI
The Genetic Evolution of Melanoma from Precursor Lesions
A. Hunter Shain,Iwei Yeh,Ivanka Kovalyshyn,Aravindhan Sriharan,Eric Talevich,Alexander Gagnon,Reinhard Dummer,Jeffrey P. North,Laura B. Pincus,Beth S. Ruben,William Rickaby,Corrado D’Arrigo,Alistair Robson,Boris C. Bastian +13 more
TL;DR: The succession of genetic alterations during melanoma progression was defined, showing distinct evolutionary trajectories for different melanoma subtypes, and an intermediate category of melanocytic neoplasia was identified, characterized by the presence of more than one pathogenic genetic alteration and distinctive histopathological features.
Journal ArticleDOI
Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers
Iñigo Landa,Tihana Ibrahimpasic,Laura Boucai,Rileen Sinha,Jeffrey A. Knauf,Ronak Shah,Snjezana Dogan,Julio C. Ricarte-Filho,Gnana P. Krishnamoorthy,Bin Xu,Nikolaus Schultz,Michael F. Berger,Chris Sander,Barry S. Taylor,Ronald Ghossein,Ian Ganly,James A. Fagin +16 more
TL;DR: These data support a model of tumorigenesis whereby PDTCs and ATCs arise from well-differentiated tumors through the accumulation of key additional genetic abnormalities, many of which have prognostic and possible therapeutic relevance.
Journal ArticleDOI
RNA in cancer.
TL;DR: The regulation of gene expression by coding and non-coding RNA is introduced and both established and emerging roles for RNAs in cancer are discussed, highlighting the potential mechanisms by which these RNA subtypes contribute to cancer.
References
More filters
Journal ArticleDOI
The eIF1A solution structure reveals a large RNA-binding surface important for scanning function.
John L. Battiste,Tatyana V. Pestova,Tatyana V. Pestova,Christopher U.T. Hellen,Gerhard Wagner +4 more
TL;DR: NMR titration experiments showed that eIF1A binds single-stranded RNA oligonucleotides in a site-specific, but non-sequence-specific manner, hinting at an mRNA interaction rather than specific rRNA or tRNA binding.
Journal ArticleDOI
The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region.
TL;DR: It is concluded that SF3b is required for this remodeling, which exposes the BBR for tight U2 snRNP binding to pre-mRNA.
Journal ArticleDOI
Domains of eIF1A that mediate binding to eIF2, eIF3 and eIF5B and promote ternary complex recruitment in vivo
Deanne S. Olsen,Erin M. Savner,Amy A. Mathew,Fan Zhang,Thanuja Krishnamoorthy,Lon Phan,Alan G. Hinnebusch +6 more
TL;DR: A modular organization is proposed for eIF1A wherein a core ribosome‐binding domain is flanked by flexible segments that mediate interactions with other factors involved in recruitment of TC and release of eIF2–GTP–Met‐tRNAiMet ternary complex at subunit joining.
Related Papers (5)
Mutations in GNA11 in Uveal Melanoma
Catherine D. Van Raamsdonk,Klaus G. Griewank,Michelle B. Crosby,Maria C. Garrido,Swapna S. Vemula,Thomas Wiesner,Anna C. Obenauf,Werner Wackernagel,Gary G. R. Green,Nancy Bouvier,M. Mert Sozen,Gail Baimukanova,Ritu Roy,Adriana Heguy,Igor Dolgalev,Raya Khanin,Klaus J. Busam,Michael R. Speicher,Joan M. O'Brien,Boris C. Bastian +19 more