Cited by 1,000Neuroendocrine Tumor Research AdvancesPancreatic and Hepatic Oncology ResearchCancer Genomics and Diagnostics

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Whole-genome landscape of pancreatic neuroendocrine tumours

Australian Pancreatic Cancer Genome Initiative, 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.·2017·Nature

DOI 10.1038/nature21063

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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.

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Dysregulation of CELF4 splicing factor in pancreatic neuroendocrine tumors enhances aggressiveness and alters mTOR pathway and everolimus responsePreprint
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“Indeed, the comprehensive molecular landscape of PanNETs revealed a notable proportion of genes related with this pathway are mutated or altered in these tumors, including from TSC1 and TSC2 to PTEN, TS2, and PIK3CA (5, 49, 60–62).”
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Authors: Initiative, A. P. C. G., Scarpa, A., Chang, D. K., Nones, K., Corbo, V., Patch, A.-M., Bailey, P., Lawlor, R. T., Johns, A. L., Miller, D. K., Mafficini, A., Rusev, B., Scardoni, M., Antonello, D., Barbi, S., Sikora, K. O., Cingarlini, S., Vicentini, C., McKay, S., Quinn, M. C. J., Bruxner, T. J. C., Christ, A. N., Harliwong, I., Idrisoglu, S., McLean, S., Nourse, C., Nourbakhsh, E., Wilson, P. J., Anderson, M. J., Fink, J. L., Newell, F., Waddell, N., Holmes, O., Kazakoff, S. H., Leonard, C., Wood, S., Xu, Q., Nagaraj, S. H., Amato, E., Dalai, I., Bersani, S., Cataldo, I., Dei Tos, A. P., Capelli, P., Davì, M. V., Landoni, L., Malpaga, A., Miotto, M., Whitehall, V. L. J., Leggett, B. A., Harris, J. L., Harris, J., Jones, M. D., Humphris, J., Chantrill, L. A., Chin, V., Nagrial, A. M., Pajic, M., Scarlett, C. J., Pinho, A., Rooman, I., Toon, C., Wu, J., Pinese, M., Cowley, M., Barbour, A., Mawson, A., Humphrey, E. S., Colvin, E. K., Chou, A., Lovell, J. A., Jamieson, N. B., Duthie, F., Gingras, M.-C., Fisher, W. E., Dagg, R. A., Lau, L. M. S., Lee, M., Pickett, H. A., Reddel, R. R., Samra, J. S., Kench, J. G., Merrett, N. D., Epari, K., Nguyen, N. Q., Zeps, N., Falconi, M., Simbolo, M., Butturini, G., Van Buren, G., Partelli, S., Fassan, M., Khanna, K. K., Gill, A. J., Wheeler, D. A., Gibbs, R. A., Musgrove, E. A., Bassi, C., Tortora, G., Pederzoli, P., Pearson, J. V., Waddell, N., Biankin, A. V., & Grimmond, S. M.
Affiliations: University of Verona (IT)
Garvan Institute of Medical Research (AU)
The University of Queensland (AU)
Queensland University of Technology (AU)
Glasgow Royal Infirmary (GB)
Baylor College of Medicine (US)
Children's Hospital at Westmead (AU)
The University of Sydney (AU)
Fremantle Hospital (AU)
Royal Adelaide Hospital (AU)
The University of Melbourne (AU)
Corresponding author: Scarpa, Aldo
Biankin, Andrew V.
Grimmond, Sean M.
ORCID: Scarpa, Aldo
Chang, David K.
Corbo, Vincenzo
Patch, Ann-Marie
Bailey, Peter
Lawlor, Rita T.
Johns, Amber L.
Mafficini, Andrea
Rusev, Borislav
Antonello, Davide
Barbi, Stefano
Cingarlini, Sara
Vicentini, Caterina
Quinn, Michael C. J.
Bruxner, Timothy J. C.
Christ, Angelika N.
Harliwong, Ivon
Nourbakhsh, Ehsan
Wilson, Peter J.
Anderson, Matthew J.
Fink, J. Lynn
Newell, Felicity
Holmes, Oliver
Kazakoff, Stephen H.
Leonard, Conrad
Wood, Scott
Nagaraj, Shivashankar Hiriyur
Bersani, Samantha
Cataldo, Ivana
Davì, Maria Vittoria
Landoni, Luca
Malpaga, Anna
Miotto, Marco
Whitehall, Vicki L. J.
Leggett, Barbara A.
Harris, Jonathan
Jones, Marc D.
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
Colvin, Emily K.
Chou, Angela
Jamieson, Nigel B.
Gingras, Marie-Claude
Dagg, Rebecca A.
Lau, Loretta M. S.
Lee, Michael
Pickett, Hilda A.
Reddel, Roger R.
Samra, Jaswinder S.
Kench, James G.
Merrett, Neil D.
Nguyen, Nam Q.
Zeps, Nikolajs
Falconi, Massimo
Simbolo, Michele
Partelli, Stefano
Fassan, Matteo
Khanna, Kum Kum
Gill, Anthony J.
Wheeler, David A.
Gibbs, Richard A.
Bassi, Claudio
Tortora, Giampaolo
Pearson, John V.
Waddell, Nicola
Biankin, Andrew V.
Grimmond, Sean M.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2017-02-15
Volume: 543
Issue: 7643
Pages: 65-71
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature21063
OpenAlex: W2589112207
Cited by: 999
References: 62
Citations by year: 2026: 65 · 2025: 101 · 2024: 103 · 2023: 110 · 2022: 126 · 2021: 108 · 2020: 131 · 2019: 89 · 2018: 103 · 2017: 52
FWCI: 81.15
Type: journal article
Language: en
Update notices: erratum (2017-09-27)
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
QUT ePrints (Queensland University of Technology) (submittedVersion)
UWA Profiles and Research Repository (UWA) (submittedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
NOVA (University of Newcastle Australia) (submittedVersion)
VUBIR (Vrije Universiteit Brussel) (submittedVersion)
Padua Research Archive (University of Padova) (submittedVersion)
Funders: Pancreatic Cancer UK (RIF2015_A06_Jamieson, FLF2015_04_GLASGOW)
Wellcome Trust (103721/Z/14/Z)
Cancer Research UK (23526, 17263, 22533)
Academy of Medical Sciences (AMS-SGCL9-Jamieson)
Medical Research Council (MR/N005813/1)
Topics: Health Sciences › Medicine › Oncology › Neuroendocrine Tumor Research Advances
Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords: pancreatic neuroendocrine tumors, mutational signatures, MUTYH, germline mutations, CHEK2, BRCA2, MEN1, VHL, chromatin remodeling, DNA repair, mTOR signaling, telomere maintenance, hypoxia, carcinogenesis
MeSH terms: Base Sequence, Calmodulin-Binding Proteins, Chromosome Aberrations, DNA Mutational Analysis, DNA Repair, Female, Humans, Male, Pancreatic Neoplasms, Genome, Human, RNA-Binding Proteins, Telomere, Germ-Line Mutation, Carcinoma, Neuroendocrine, Genomics, RNA-Binding Protein EWS, Chromatin Assembly and Disassembly, DNA Glycosylases, DNA Copy Number Variations, TOR Serine-Threonine Kinases

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