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Landscape of somati...
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival
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Zaidi, Syed H. (author)
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Harrison, Tabitha A. (author)
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Phipps, Amanda I. (author)
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show more...
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Steinfelder, Robert (author)
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Trinh, Quang M. (author)
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Qu, Conghui (author)
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Banbury, Barbara L. (author)
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Georgeson, Peter (author)
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Grasso, Catherine S. (author)
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Giannakis, Marios (author)
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Adams, Jeremy B. (author)
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Alwers, Elizabeth (author)
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Amitay, Efrat L. (author)
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Barfield, Richard T. (author)
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Berndt, Sonja, I (author)
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Borozan, Ivan (author)
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Brenner, Hermann (author)
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Brezina, Stefanie (author)
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Buchanan, Daniel D. (author)
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Cao, Yin (author)
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Chan, Andrew T. (author)
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Chang-Claude, Jenny (author)
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Connolly, Charles M. (author)
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Drew, David A. (author)
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Farris, Alton Brad, III (author)
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Figueiredo, Jane C. (author)
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French, Amy J. (author)
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Fuchs, Charles S. (author)
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Garraway, Levi A. (author)
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Gruber, Steve (author)
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Guinter, Mark A. (author)
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Hamilton, Stanley R. (author)
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- Harlid, Sophia, 1978- (author)
- Umeå universitet,Onkologi
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Heisler, Lawrence E. (author)
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Hidaka, Akihisa (author)
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Hopper, John L. (author)
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Huang, Wen-Yi (author)
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Huyghe, Jeroen R. (author)
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Jenkins, Mark A. (author)
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Krzyzanowski, Paul M. (author)
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Lemire, Mathieu (author)
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Lin, Yi (author)
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Luo, Xuemei (author)
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Mardis, Elaine R. (author)
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McPherson, John D. (author)
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Miller, Jessica K. (author)
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Moreno, Victor (author)
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Mu, Xinmeng Jasmine (author)
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Nishihara, Reiko (author)
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Papadopoulos, Nickolas (author)
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Pasternack, Danielle (author)
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Quist, Michael J. (author)
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Rafikova, Adilya (author)
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Reid, Emma E. G. (author)
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Shinbrot, Eve (author)
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Shirts, Brian H. (author)
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Stein, Lincoln D. (author)
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Teney, Cherie D. (author)
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Timms, Lee (author)
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Um, Caroline Y. (author)
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- van Guelpen, Bethany (author)
- Umeå universitet,Onkologi,Wallenberg centrum för molekylär medicin vid Umeå universitet (WCMM)
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Van Tassel, Megan (author)
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Wang, Xiaolong (author)
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Wheeler, David A. (author)
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Yung, Christina K. (author)
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Hsu, Li (author)
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Ogino, Shuji (author)
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Gsur, Andrea (author)
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Newcomb, Polly A. (author)
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Gallinger, Steven (author)
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Hoffmeister, Michael (author)
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Campbell, Peter T. (author)
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Thibodeau, Stephen N. (author)
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Sun, Wei (author)
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Hudson, Thomas J. (author)
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Peters, Ulrike (author)
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(creator_code:org_t)
- 2020-07-20
- 2020
- English.
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In: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 11:1
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Colorectal cancer (CRC) is a biologically heterogeneous disease. To characterize its mutational profile, we conduct targeted sequencing of 205 genes for 2,105 CRC cases with survival data. Our data shows several findings in addition to enhancing the existing knowledge of CRC. We identify PRKCI, SPZ1, MUTYH, MAP2K4, FETUB, and TGFBR2 as additional genes significantly mutated in CRC. We find that among hypermutated tumors, an increased mutation burden is associated with improved CRC-specific survival (HR=0.42, 95% CI: 0.21-0.82). Mutations in TP53 are associated with poorer CRC-specific survival, which is most pronounced in cases carrying TP53 mutations with predicted 0% transcriptional activity (HR=1.53, 95% CI: 1.21-1.94). Furthermore, we observe differences in mutational frequency of several genes and pathways by tumor location, stage, and sex. Overall, this large study provides deep insights into somatic mutations in CRC, and their potential relationships with survival and tumor features. Large scale sequencing study is of paramount importance to unravel the heterogeneity of colorectal cancer. Here, the authors sequenced 205 cancer genes in more than 2000 tumours and identified additional mutated driver genes, determined that mutational burden and specific mutations in TP53 are associated with survival odds.
Subject headings
- 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)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Zaidi, Syed H.
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Harrison, Tabith ...
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Phipps, Amanda I ...
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Steinfelder, Rob ...
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Trinh, Quang M.
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Qu, Conghui
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show more...
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Banbury, Barbara ...
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Georgeson, Peter
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Grasso, Catherin ...
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Giannakis, Mario ...
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Adams, Jeremy B.
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Alwers, Elizabet ...
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Amitay, Efrat L.
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Barfield, Richar ...
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Berndt, Sonja, I
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Borozan, Ivan
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Brenner, Hermann
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Brezina, Stefani ...
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Buchanan, Daniel ...
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Cao, Yin
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Chan, Andrew T.
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Chang-Claude, Je ...
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Connolly, Charle ...
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Drew, David A.
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Farris, Alton Br ...
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Figueiredo, Jane ...
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French, Amy J.
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Fuchs, Charles S ...
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Garraway, Levi A ...
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Gruber, Steve
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Guinter, Mark A.
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Hamilton, Stanle ...
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Harlid, Sophia, ...
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Heisler, Lawrenc ...
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Hidaka, Akihisa
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Hopper, John L.
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Huang, Wen-Yi
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Huyghe, Jeroen R ...
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Jenkins, Mark A.
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Krzyzanowski, Pa ...
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Lemire, Mathieu
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Lin, Yi
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Luo, Xuemei
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Mardis, Elaine R ...
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McPherson, John ...
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Miller, Jessica ...
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Moreno, Victor
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Mu, Xinmeng Jasm ...
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Nishihara, Reiko
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Papadopoulos, Ni ...
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Pasternack, Dani ...
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Quist, Michael J ...
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Rafikova, Adilya
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Reid, Emma E. G.
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Shinbrot, Eve
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Shirts, Brian H.
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Stein, Lincoln D ...
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Teney, Cherie D.
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Timms, Lee
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Um, Caroline Y.
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van Guelpen, Bet ...
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Van Tassel, Mega ...
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Wang, Xiaolong
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Wheeler, David A ...
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Yung, Christina ...
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Hsu, Li
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Ogino, Shuji
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Gsur, Andrea
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Newcomb, Polly A ...
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Gallinger, Steve ...
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Hoffmeister, Mic ...
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Campbell, Peter ...
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Thibodeau, Steph ...
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Sun, Wei
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Hudson, Thomas J ...
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Peters, Ulrike
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- About the subject
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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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Nature Communica ...
- By the university
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Umeå University