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Your search keyword '"Laetitia Borsu"' showing total 3 results
Start Over Author "Laetitia Borsu" Publisher springer science and business media llc
3 results on '"Laetitia Borsu"'

1. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

Author

Helen Won, James J. Harding, David S. Klimstra, Andrea Cercek, Nitya Raj, Emmet Jordan, Darren R. Feldman, Michael F. Berger, Barry S. Taylor, Meera Hameed, Jacklyn Casanova, Jesse Galle, Meera Prasad, Sumit Middha, Pedram Razavi, Philip Jonsson, Jaclyn F. Hechtman, Ritika Kundra, David B. Solit, Yelena Y. Janjigian, Jonathan A. Coleman, Lisa Stewart, Antonio Omuro, Stacy B. Thomas, Anoop Balakrishnan Rema, Snjezana Dogan, Preethi Srinivasan, Ryan Ptashkin, Dara S. Ross, Mrinal M. Gounder, Bernard H. Bochner, Dalicia N. Reales, Hikmat Al-Ahmadie, Michael H. Eubank, Hsiao-Wei Chen, Mustafa H Syed, Donavan T. Cheng, Jinjuan Yao, Gowtham Jayakumaran, Ryma Benayed, David M. Hyman, Deborah DeLair, Howard I. Scher, Sean M. Devlin, Justyna Sadowska, Rona Yaeger, Anna M. Varghese, Matthew D. Hellmann, Matthew T. Chang, Zachary J. Heins, José Baselga, Tara Soumerai, Alexander N. Shoushtari, Ahmet Zehir, Alison M. Schram, Debyani Chakravarty, Efsevia Vakiani, Leonard B. Saltz, Maria E. Arcila, Gregory J. Riely, Gopa Iyer, Ruben Bacares, Tessara Baldi, Hyunjae R. Kim, Robert Durany, Sarah Phillips, Maeve A. Lowery, Mark E. Robson, A. Ari Hakimi, Niedzica Camacho, Jiaojiao Wang, Khedoudja Nafa, Hongxin Zhang, Marc Ladanyi, Alexander V Penson, Iwona Kiecka, Aijazuddin Syed, Jianjiong Gao, Jonathan Wills, Raghu Chandramohan, Nikolaus Schultz, Kerry Mullaney, Laetitia Borsu, Diana Mandelker, Julie B Son, Wassim Abida, Ciara Marie Kelly, Benjamin Gross, Adam Abeshouse, Roy Cambria, Luc G. T. Morris, Neerav Shukla, Paul Sabbatini, Zhen Y Liu, Ronak Shah, Anna Razumova, Abhinita Mohanty, Stuart Gardos, David Barron, and Angelica Ochoa

Subjects
Male, 0301 basic medicine, Sequence analysis, Genomics, Computational biology, Biology, Gene mutation, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Biomarkers, Tumor, Data Mining, Humans, Prospective Studies, Neoplasm Metastasis, Prospective cohort study, Gene, High-Throughput Nucleotide Sequencing, DNA, Neoplasm, Sequence Analysis, DNA, General Medicine, 3. Good health, Clinical trial, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Feasibility Studies, Female, Normal sequence, Cohort study
Abstract

Tumor molecular profiling is a fundamental component of precision oncology, enabling the identification of genomic alterations in genes and pathways that can be targeted therapeutically. The existence of recurrent targetable alterations across distinct histologically defined tumor types, coupled with an expanding portfolio of molecularly targeted therapies, demands flexible and comprehensive approaches to profile clinically relevant genes across the full spectrum of cancers. We established a large-scale, prospective clinical sequencing initiative using a comprehensive assay, MSK-IMPACT, through which we have compiled tumor and matched normal sequence data from a unique cohort of more than 10,000 patients with advanced cancer and available pathological and clinical annotations. Using these data, we identified clinically relevant somatic mutations, novel noncoding alterations, and mutational signatures that were shared by common and rare tumor types. Patients were enrolled on genomically matched clinical trials at a rate of 11%. To enable discovery of novel biomarkers and deeper investigation into rare alterations and tumor types, all results are publicly accessible.

Published
2017
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2. Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway

Author

Marc Ladanyi, Cheddhi Thomas, David T.W. Jones, Ehud Lavi, Lukas Chavez, Matthias A. Karajannis, Ryma Benayed, David Capper, Matija Snuderl, Carole Brathwaite, Laetitia Borsu, Ingmar Blümcke, Marc K. Rosenblum, Richard Saffery, Nolan Altman, Jason T. Huse, Jonathan Serrano, and Alexandra Sexton-Oates

Subjects
Male, 0301 basic medicine, Pathology, Antigens, CD34, Proto-Oncogene Mas, Immunolabeling, 0302 clinical medicine, Neoplasm, Child, Brain Neoplasms, Neoplasms, Neuroepithelial, 3. Good health, Gene Expression Regulation, Neoplastic, Neuroepithelial cell, Fibroblast growth factor receptor, Child, Preschool, Low-grade neuroepithelial tumor, DNA methylation, Female, Mitogen-Activated Protein Kinases, Neuroglia, Signal Transduction, Adult, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Adolescent, Oligodendroglioma, Clinical Neurology, Biology, Neuroepithelial Neoplasm, BRAF, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Glial Fibrillary Acidic Protein, medicine, Humans, Original Paper, Epilepsy, Cluster of differentiation, medicine.disease, Receptors, Fibroblast Growth Factor, 030104 developmental biology, FGFR3, FGFR2, Mutation, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

Epileptogenic tumors affecting children and young adults are a morphologically diverse collection of neuroepithelial neoplasms that, as a group, exhibit varying levels of glial and/or neuronal differentiation. Recent advances in molecular profiling technology, including comprehensive DNA sequencing and methylation analysis, have enabled the application of more precise and biologically relevant classification schemes to these tumors. In this report, we describe a morphologically and molecularly distinct epileptogenic neoplasm, the polymorphous low-grade neuroepithelial tumor of the young (PLNTY), which likely accounts for a sizable portion of oligodendroglioma-like tumors affecting the pediatric population. Characteristic microscopic findings most notably include infiltrative growth, the invariable presence of oligodendroglioma-like cellular components, and intense immunolabeling for cluster of differentiation 34 (CD34). Moreover, integrative molecular profiling reveals a distinct DNA methylation signature for PLNTYs, along with frequent genetic abnormalities involving either B-Raf proto-oncogene (BRAF) or fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3). These findings suggest that PLNTY represents a distinct biological entity within the larger spectrum of pediatric, low-grade neuroepithelial tumors. Electronic supplementary material The online version of this article (doi:10.1007/s00401-016-1639-9) contains supplementary material, which is available to authorized users.

Published
2016
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3. Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Author

Sandy Aronson, Leslie Cope, Michael L. Bittner, Daniel C. Koboldt, Alex E. Lash, W. K. Alfred Yung, Margaret Morgan, Devin Absher, Carl F. Schaefer, Roger E. McLendon, Michael D. Prados, Josh Gould, Ju Han, Stacey Gabriel, Scott R. VandenBerg, Ilana Perna, Troy Shelton, Junyuan Wu, Sacha Scott, Steve Scherer, Michael J. T. O’Kelly, Li Ding, Erin Hickey, Elizabeth J. Thomson, Bahram Parvin, Kim D. Delehaunty, Gi Choi Yoon, Mark D. Robinson, Oliver Bogler, Darrell D. Bigner, Michael R. Reich, Jianhua Zhang, Robert S. Fulton, Allan H. Friedman, Tammi L. Vickery, Amita Aggarwal, Subhashree Madhavan, Liuda Ziaugra, Yuan Qi, Vandita Joshi, Eric Van Name, Jane Wilkinson, W. Ruprecht Wiedemeyer, Xiaoqi Shi, Richard A. Gibbs, Lynda Chin, Jessica Chen, Stefano Monti, Erwin G. Van Meir, John Ngai, Amy Hawkins, Elizabeth Lenkiewicz, Brad Ozenberger, Shannon Dorton, Georgia Ren, John N. Weinstein, Gena M. Mastrogianakis, Asif T. Chinwalla, Scott L. Carter, Nicholas D. Socci, Rachel Abbott, Gavin Sherlock, Lucinda Fulton, Hyun Soo Kim, Fei Pan, Magali Cavatore, Gabriele Alexe, Francis S. Collins, Narayanan Sathiamoorthy, Lakshmi Jakkula, Brian H. Dunford-Shore, Jireh Santibanez, Tom Mikkelsen, Huy V. Nguyen, Levi A. Garraway, Christopher A. Miller, Jinghui Zhang, Ken Chen, Timothy Fennell, Robert Sfeir, James A. Robinson, Alexey Stukalov, Richard K. Wilson, Matthew Meyerson, Daniel J. Weisenberger, Mi Yi Joo, Yevgeniy Antipin, Anna Lapuk, Gerald V. Fontenay, Nicolas Stransky, Adam B. Olshen, Elizabeth Purdom, Josh Korn, Huyen Dinh, Sai Balu, Victoria Wang, James G. Herman, Christie Kovar, Kristian Cibulskis, Tisha Chung, Agnes Viale, Paul T. Spellman, Supriya Gupta, Melissa Parkin, Peter J. Park, Maddy Wiechert, John W. Wallis, Peter W. Laird, Nikolaus Schultz, James D. Brooks, David Nassau, Jun Li, John R. Osborne, Anna D. Barker, Peter Fielding, Boris Reva, Karen Vranizan, D. Neil Hayes, Aleksandar Milosavljevic, Lawrence A. Donehower, Won Kong Sek, Daniela S. Gerhard, Otis Hall, Rameen Beroukhim, Audrey Southwick, George M. Weinstock, Chris Markovic, Roel G.W. Verhaak, David Van Den Berg, Joe W. Gray, Yanru Ren, Ethan Cerami, Yiming Zhu, Amrita Ray, Yonghong Xiao, Kristin G. Ardlie, William L. Gerald, Michael S. Lawrence, Gerald R. Fowler, Mark S. Guyer, Isaac S. Kohane, Kornel E. Schuebel, Mitchel S. Berger, Jeffrey J. Olson, Gary W. Swift, Lora Lewis, Sheri Sanders, Norman L. Lehman, Eric S. Lander, Robert Penny, Liliana Villafania, John G. Conboy, Ari B. Kahn, Henry Marr, Heidi S. Feiler, Lynn Nazareth, David J. Dooling, Katherine A. Hoadley, Alicia Hawes, Marc Ladanyi, Aniko Sabo, Wendy Winckler, Vivian Peng, Barbara A. Weir, Daniel J. Brat, Scott Morris, Carolyn C. Compton, Todd R. Golub, Scott Abbott, Michael D. McLellan, Jiqiang Yao, Shalini N. Jhangiani, Michael D. Topal, Michael C. Wendl, Gad Getz, Jun Yao, Derek Y. Chiang, Larry Feng, Steffen Durinck, David A. Wheeler, Yuzhu Tang, Benjamin Gross, Barry S. Taylor, Kenneth Aldape, Craig Pohl, Rick Meyer, Peter J. Good, Ling Lin, Elaine R. Mardis, Robert C. Onofrio, Jane Peterson, Stephen B. Baylin, Li-Xuan Qin, Andrew Cree, Cameron Brennan, Charles M. Perou, William Courtney, Omar Alvi, Donna M. Muzny, Joseph G. Vockley, Jill P. Mesirov, Yan Shi, Alexei Protopopov, Jim Vaught, Craig H. Mermel, Scott Mahan, Laetitia Borsu, Heather Schmidt, Jennifer Baldwin, Tracie L. Miner, Toby Bloom, David E. Larson, Leander Van Neste, Nicholas J. Wang, Kenneth H. Buetow, Raju Kucherlapati, Anthony San Lucas, Martin L. Ferguson, Terence P. Speed, Venkatraman E. Seshan, Debbie Beasley, Carrie Sougnez, Carrie A. Haipek, Richard M. Myers, Chris Sander, Qing Wang Wei, Jon G. Seidman, Rob Nicol, Manuel L. Gonzalez-Garay, Shin Leong, Shannon T. Brady, and University of Groningen

Subjects
Male, Models, Molecular, DNA Repair, Gene Dosage, NEUROFIBROMATOSIS TYPE-1, MISMATCH REPAIR, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, Genes, Tumor Suppressor, DNA Modification Methylases, Proneural Glioblastoma, Aged, 80 and over, Genetics, 0303 health sciences, Neurofibromin 1, Multidisciplinary, Brain Neoplasms, NF1 GENE, Genomics, Middle Aged, TUMORS, ALKYLATING-AGENTS, 3. Good health, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, DNA methylation, Female, DNA mismatch repair, Functional genomics, Signal Transduction, Adult, Adolescent, CELL-LINES, Oncogenomics, Biology, Article, 03 medical and health sciences, PIK3CA GENE, Humans, Epigenetics, Gene, Aged, Retrospective Studies, 030304 developmental biology, HIGH-FREQUENCY, Genome, Human, Tumor Suppressor Proteins, SOMATIC MUTATIONS, Genes, erbB-1, DNA Methylation, Protein Structure, Tertiary, MALIGNANT GLIOMAS, DNA Repair Enzymes, Mutation, Glioblastoma
Abstract

Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide substitutions and epigenetic modifications that drive malignant transformation. The Cancer Genome Atlas ( TCGA) pilot project aims to assess the value of large- scale multi- dimensional analysis of these molecular characteristics in human cancer and to provide the data rapidly to the research community. Here we report the interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in 206 glioblastomas - the most common type of primary adult brain cancer - and nucleotide sequence aberrations in 91 of the 206 glioblastomas. This analysis provides new insights into the roles of ERBB2, NF1 and TP53, uncovers frequent mutations of the phosphatidylinositol- 3- OH kinase regulatory subunit gene PIK3R1, and provides a network view of the pathways altered in the development of glioblastoma. Furthermore, integration of mutation, DNA methylation and clinical treatment data reveals a link between MGMT promoter methylation and a hypermutator phenotype consequent to mismatch repair deficiency in treated glioblastomas, an observation with potential clinical implications. Together, these findings establish the feasibility and power of TCGA, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer.

Published
2008
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