作者
Andrew V Biankin, Nicola Waddell, Karin S Kassahn, Marie-Claude Gingras, Lakshmi B Muthuswamy, Amber L Johns, David K Miller, Peter J Wilson, Ann-Marie Patch, Jianmin Wu, David K Chang, Mark J Cowley, Brooke B Gardiner, Sarah Song, Ivon Harliwong, Senel Idrisoglu, Craig Nourse, Ehsan Nourbakhsh, Suzanne Manning, Shivangi Wani, Milena Gongora, Marina Pajic, Christopher J Scarlett, Anthony J Gill, Andreia V Pinho, Ilse Rooman, Matthew Anderson, Oliver Holmes, Conrad Leonard, Darrin Taylor, Scott Wood, Qinying Xu, Katia Nones, J Lynn Fink, Angelika Christ, Tim Bruxner, Nicole Cloonan, Gabriel Kolle, Felicity Newell, Mark Pinese, R Scott Mead, Jeremy L Humphris, Warren Kaplan, Marc D Jones, Emily K Colvin, Adnan M Nagrial, Emily S Humphrey, Angela Chou, Venessa T Chin, Lorraine A Chantrill, Amanda Mawson, Jaswinder S Samra, James G Kench, Jessica A Lovell, Roger J Daly, Neil D Merrett, Christopher Toon, Krishna Epari, Nam Q Nguyen, Andrew Barbour, Nikolajs Zeps, Royal North Shore Hospital Samra Jaswinder S. 39 Gill Anthony J. 39 Pavlakis Nick 39 Guminski Alex 39 Toon Christopher 39, Bankstown Hospital Biankin Andrew V. 40 Asghari Ray 40 Merrett Neil D. 40 Chang David K. 40 Pavey Darren A. 40 Das Amitabha 40, Liverpool Hospital Cosman Peter H. 41 Ismail Kasim 41 O’Connor Chelsie 41, Westmead Hospital Lam Vincent W. 42 McLeod Duncan 42 Pleass Henry C. 42 Richardson Arthur 42 James Virginia 42, Royal Prince Alfred Hospital Kench James G. 43 Cooper Caroline L. 43 Joseph David 43 Sandroussi Charbel 43 Crawford Michael 43 Gallagher James 43, Fremantle Hospital Texler Michael 44 Forrest Cindy 44 Laycock Andrew 44 Epari Krishna P. 44 Ballal Mo 44 Fletcher David R. 44 Mukhedkar Sanjay 44, Sir Charles Gairdner Hospital Spry Nigel A. 45 DeBoer Bastiaan 45 Chai Ming 45, St John of God Healthcare Zeps Nikolajs 46 Beilin Maria 46 Feeney Kynan 46, Royal Adelaide Hospital Nguyen Nam Q. 47 Ruszkiewicz Andrew R. 47 Worthley Chris 47 Tan Chuan P. 47 Debrencini Tamara 47, Flinders Medical Centre Chen John 48 Brooke-Smith Mark E. 48 Papangelis Virginia 48, Greenslopes Private Hospital Tang Henry 49 Barbour Andrew P. 49, Envoi Pathology Clouston Andrew D. 50 Martin Patrick 50, Princess Alexandria Hospital O’Rourke Thomas J. 51 Chiang Amy 51 Fawcett Jonathan W. 51 Slater Kellee 51 Yeung Shinn 51 Hatzifotis Michael 51 Hodgkinson Peter 51, Austin Hospital Christophi Christopher 52 Nikfarjam Mehrdad 52 Mountain Victorian Cancer Biobank Angela 52 53, Johns Hopkins Medical Institutes Eshleman James R. 54 Hruban Ralph H. 54 Maitra Anirban 54 Iacobuzio-Donahue Christine A. 54 Schulick Richard D. 54 Wolfgang Christopher L. 54 Morgan Richard A. 54 Hodgin Mary B. 54, ARC-NET Center for Applied Research on Cancer Scarpa Aldo 55 Lawlor Rita T. 55 Capelli Paola 55 Beghelli Stefania 55 Corbo Vincenzo 55 Scardoni Maria 55 Pederzoli Paolo 55 Tortora Giampaolo 55 Bassi Claudio 55, University of California, San Francisco Tempero Margaret A. 56
发表日期
2012/11/15
期刊
Nature
卷号
491
期号
7424
页码范围
399-405
出版商
Nature Publishing Group UK
简介
Pancreatic cancer is a highly lethal malignancy with few effective therapies. We performed exome sequencing and copy number analysis to define genomic aberrations in a prospectively accrued clinical cohort (n = 142) of early (stage I and II) sporadic pancreatic ductal adenocarcinoma. Detailed analysis of 99 informative tumours identified substantial heterogeneity with 2,016 non-silent mutations and 1,628 copy-number variations. We define 16 significantly mutated genes, reaffirming known mutations (KRAS, TP53, CDKN2A, SMAD4, MLL3, TGFBR2, ARID1A and SF3B1), and uncover novel mutated genes including additional genes involved in chromatin modification (EPC1 and ARID2), DNA damage repair (ATM) and other mechanisms (ZIM2, MAP2K4, NALCN, SLC16A4 and MAGEA6). Integrative analysis with in vitro functional data and animal models provided supportive evidence for potential roles for these …
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AV Biankin, N Waddell, KS Kassahn, MC Gingras… - Nature, 2012