Whole-genome landscape of pancreatic neuroendocrine tumours

Scarpa, Aldo, Chang, David K., Nones, Katia, Corbo, Vincenzo, Patch, Ann-Marie, Bailey, Peter, Lawlor, Rita T., Johns, Amber L., Miller, David K., Mafficini, Andrea, Rusev, Borislav, Scardoni, Maria, Antonello, Davide, Barbi, Stefano, Sikora, Katarzyna O., Cingarlini, Sara, Vicentini, Caterina, McKay, Skye, Quinn, Michael C.J., Bruxner, Timothy J.C., Christ, Angelika N., Harliwong, Ivon, Idrisoglu, Senel, McLean, Suzanne, Nourse, Craig, Nourbakhsh, Ehsan, Wilson, Peter J., Anderson, Matthew J., Fink, J. Lynn, Newell, Felicity, Waddell, Nick, Holmes, Oliver, Kazakoff, Stephen H., Leonard, Conrad, Wood, Scott, Xu, Qinying, Nagaraj, Shivashankar Hiriyur, Amato, Eliana, Dalai, Irene, Bersani, Samantha, Cataldo, Ivana, Dei Tos, Angelo P., Capelli, Paola, Davì, Maria Vittoria, Landoni, Luca, Malpaga, Anna, Miotto, Marco, Whitehall, Vicki L.J., Leggett, Barbara A., Harris, Janelle L., Harris, Jonathan, Jones, Marc D., Humphris, Jeremy, Chantrill, Lorraine A., Chin, Venessa, Nagrial, Adnan M., Pajic, Marina, Scarlett, Christopher J., Pinho, Andreia, Rooman, Ilse, Toon, Christopher, Wu, Jianmin, Pinese, Mark, Cowley, Mark, Barbour, Andrew, Mawson, Amanda, Humphrey, Emily S., Colvin, Emily K., Chou, Angela, Lovell, Jessica A., Jamieson, Nigel B., Duthie, Fraser, Gingras, Marie-Claude, Fisher, William E., Dagg, Rebecca A., Lau, Loretta M.S., Lee, Michael, Pickett, Hilda A., Reddel, Roger R., Samra, Jaswinder S., Kench, James G., Merrett, Neil D., Epari, Krishna, Nguyen, Nam Q., Zeps, Nikolajs, Falconi, Massimo, Simbolo, Michele, Butturini, Giovanni, Van Buren, George, Partelli, Stefano, Fassan, Matteo, Khanna, Kum Kum, Gill, Anthony J., Wheeler, David A., Gibbs, Richard A., Musgrove, Elizabeth A., Bassi, Claudio, Tortora, Giampaolo, Pederzoli, Paolo, Pearson, John V., Waddell, Nicola, Biankin, Andrew V. and Grimmond, Sean M. (2017) Whole-genome landscape of pancreatic neuroendocrine tumours. Nature, 543 7643: 65-71. doi:10.1038/nature21063

Author Scarpa, Aldo
Chang, David K.
Nones, Katia
Corbo, Vincenzo
Patch, Ann-Marie
Bailey, Peter
Lawlor, Rita T.
Johns, Amber L.
Miller, David K.
Mafficini, Andrea
Rusev, Borislav
Scardoni, Maria
Antonello, Davide
Barbi, Stefano
Sikora, Katarzyna O.
Cingarlini, Sara
Vicentini, Caterina
McKay, Skye
Quinn, Michael C.J.
Bruxner, Timothy J.C.
Christ, Angelika N.
Harliwong, Ivon
Idrisoglu, Senel
McLean, Suzanne
Nourse, Craig
Nourbakhsh, Ehsan
Wilson, Peter J.
Anderson, Matthew J.
Fink, J. Lynn
Newell, Felicity
Waddell, Nick
Holmes, Oliver
Kazakoff, Stephen H.
Leonard, Conrad
Wood, Scott
Xu, Qinying
Nagaraj, Shivashankar Hiriyur
Amato, Eliana
Dalai, Irene
Bersani, Samantha
Cataldo, Ivana
Dei Tos, Angelo P.
Capelli, Paola
Davì, Maria Vittoria
Landoni, Luca
Malpaga, Anna
Miotto, Marco
Whitehall, Vicki L.J.
Leggett, Barbara A.
Harris, Janelle L.
Harris, Jonathan
Jones, Marc D.
Humphris, Jeremy
Chantrill, Lorraine A.
Chin, Venessa
Nagrial, Adnan M.
Pajic, Marina
Scarlett, Christopher J.
Pinho, Andreia
Rooman, Ilse
Toon, Christopher
Wu, Jianmin
Pinese, Mark
Cowley, Mark
Barbour, Andrew
Mawson, Amanda
Humphrey, Emily S.
Colvin, Emily K.
Chou, Angela
Lovell, Jessica A.
Jamieson, Nigel B.
Duthie, Fraser
Gingras, Marie-Claude
Fisher, William E.
Dagg, Rebecca A.
Lau, Loretta M.S.
Lee, Michael
Pickett, Hilda A.
Reddel, Roger R.
Samra, Jaswinder S.
Kench, James G.
Merrett, Neil D.
Epari, Krishna
Nguyen, Nam Q.
Zeps, Nikolajs
Falconi, Massimo
Simbolo, Michele
Butturini, Giovanni
Van Buren, George
Partelli, Stefano
Fassan, Matteo
Khanna, Kum Kum
Gill, Anthony J.
Wheeler, David A.
Gibbs, Richard A.
Musgrove, Elizabeth A.
Bassi, Claudio
Tortora, Giampaolo
Pederzoli, Paolo
Pearson, John V.
Waddell, Nicola
Biankin, Andrew V.
Grimmond, Sean M.
Title Whole-genome landscape of pancreatic neuroendocrine tumours
Journal name Nature   Check publisher's open access policy
ISSN 1476-4687
Publication date 2017-03-02
Year available 2017
Sub-type Article (original research)
DOI 10.1038/nature21063
Open Access Status Not yet assessed
Volume 543
Issue 7643
Start page 65
End page 71
Total pages 7
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 1000 General
Abstract The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients. Somatic mutations, including point mutations and gene fusions, were commonly found in genes involved in four main pathways: chromatin remodelling, DNA damage repair, activation of mTOR signalling (including previously undescribed EWSR1 gene fusions), and telomere maintenance. In addition, our gene expression analyses identified a subgroup of tumours associated with hypoxia and HIF signalling.
Keyword Ewing Sarcoma
Mutational Processes
Molecular Subtypes
Tp53 Mutations
Pathway Genes
Mtor Pathway
Q-Index Code C1
Q-Index Status Provisional Code
U54 HG003273
Institutional Status UQ

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