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Comprehensive Analy...
Comprehensive Analysis of Hypermutation in Human Cancer
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Campbell, Brittany B. (author)
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Light, Nicholas (author)
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Fabrizio, David (author)
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Zatzman, Matthew (author)
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Fuligni, Fabio (author)
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de Borja, Richard (author)
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Davidson, Scott (author)
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Edwards, Melissa (author)
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Elvin, Julia A. (author)
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Hodel, Karl P. (author)
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Zahurancik, Walter J. (author)
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Suo, Zucai (author)
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Lipman, Tatiana (author)
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Wimmer, Katharina (author)
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Kratz, Christian P. (author)
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Bowers, Daniel C. (author)
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Laetsch, Theodore W. (author)
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Dunn, Gavin P. (author)
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Johanns, Tanner M. (author)
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Grimmer, Matthew R. (author)
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Smirnov, Ivan V. (author)
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Larouche, Valérie (author)
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Samuel, David (author)
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Bronsema, Annika (author)
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Osborn, Michael (author)
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Stearns, Duncan (author)
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Raman, Pichai (author)
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Cole, Kristina A. (author)
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Storm, Phillip B. (author)
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Yalon, Michal (author)
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Opocher, Enrico (author)
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Mason, Gary (author)
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Thomas, Gregory A. (author)
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- Sabel, Magnus, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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George, Ben (author)
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Ziegler, David S. (author)
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Lindhorst, Scott (author)
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Issai, Vanan Magimairajan (author)
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Constantini, Shlomi (author)
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Toledano, Helen (author)
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Elhasid, Ronit (author)
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Farah, Roula (author)
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Dvir, Rina (author)
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Dirks, Peter (author)
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Huang, Annie (author)
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Galati, Melissa A. (author)
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Chung, Jiil (author)
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Ramaswamy, Vijay (author)
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Irwin, Meredith S. (author)
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Aronson, Melyssa (author)
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Durno, Carol (author)
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Taylor, Michael D. (author)
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Rechavi, Gideon (author)
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Maris, John M. (author)
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Bouffet, Eric (author)
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Hawkins, Cynthia (author)
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Costello, Joseph F. (author)
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Meyn, M. Stephen (author)
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Pursell, Zachary F. (author)
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Malkin, David (author)
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Tabori, Uri (author)
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Shlien, Adam (author)
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(creator_code:org_t)
- Elsevier BV, 2017
- 2017
- English.
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In: Cell. - : Elsevier BV. - 0092-8674 .- 1097-4172. ; 171:5
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http://www.cell.com/...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- © 2017 Elsevier Inc. We present an extensive assessment of mutation burden through sequencing analysis of > 81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations. Hypermutation was detected in tumor types not previously associated with high mutation burden. Replication repair deficiency was a major contributing factor. We uncovered new driver mutations in the replication-repair-associated DNA polymerases and a distinct impact of microsatellite instability and replication repair deficiency on the scale of mutation load. Unbiased clustering, based on mutational context, revealed clinically relevant subgroups regardless of the tumors' tissue of origin, highlighting similarities in evolutionary dynamics leading to hypermutation. Mutagens, such as UV light, were implicated in unexpected cancers, including sarcomas and lung tumors. The order of mutational signatures identified previous treatment and germline replication repair deficiency, which improved management of patients and families. These data will inform tumor classification, genetic testing, and clinical trial design. A large-scale analysis of hypermutation in human cancers provides insights into tumor evolution dynamics and identifies clinically actionable mutation signatures.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Cancer genomics
- Cancer predisposition
- DNA repair
- DNA replication
- Hypermutation
- Immune checkpoint inhibitors
- Mismatch repair
- Mutator
Publication and Content Type
- ref (subject category)
- art (subject category)
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Cell
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To the university's database
- By the author/editor
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Campbell, Britta ...
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Light, Nicholas
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Fabrizio, David
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Zatzman, Matthew
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Fuligni, Fabio
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de Borja, Richar ...
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show more...
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Davidson, Scott
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Edwards, Melissa
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Elvin, Julia A.
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Hodel, Karl P.
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Zahurancik, Walt ...
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Suo, Zucai
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Lipman, Tatiana
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Wimmer, Katharin ...
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Kratz, Christian ...
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Bowers, Daniel C ...
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Laetsch, Theodor ...
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Dunn, Gavin P.
-
Johanns, Tanner ...
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Grimmer, Matthew ...
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Smirnov, Ivan V.
-
Larouche, Valéri ...
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Samuel, David
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Bronsema, Annika
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Osborn, Michael
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Stearns, Duncan
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Raman, Pichai
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Cole, Kristina A ...
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Storm, Phillip B ...
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Yalon, Michal
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Opocher, Enrico
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Mason, Gary
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Thomas, Gregory ...
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Sabel, Magnus, 1 ...
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George, Ben
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Ziegler, David S ...
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Lindhorst, Scott
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Issai, Vanan Mag ...
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Constantini, Shl ...
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Toledano, Helen
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Elhasid, Ronit
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Farah, Roula
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Dvir, Rina
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Dirks, Peter
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Huang, Annie
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Galati, Melissa ...
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Chung, Jiil
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Ramaswamy, Vijay
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Irwin, Meredith ...
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Aronson, Melyssa
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Durno, Carol
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Taylor, Michael ...
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Rechavi, Gideon
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Maris, John M.
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Bouffet, Eric
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Hawkins, Cynthia
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Costello, Joseph ...
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Meyn, M. Stephen
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Pursell, Zachary ...
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Malkin, David
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Tabori, Uri
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Shlien, Adam
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Cell
- By the university
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University of Gothenburg