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http://hdl.handle.net/2445/173462
Title: | Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival |
Author: | Zaidi, Syed H. Harrison, Tabitha A. Phipps, Amanda I. Steinfelder, Robert Trinh, Quang M. Qu, Conghui Banbury, Barbara L. Georgeson, Peter Grasso, Catherine S. Giannakis, Marios Adams, Jeremy B. Alwers, Elizabeth Amitay, Efrat L. Barfield, Richard T. Berndt, Sonja I. Borozan, Ivan Brenner, Hermann Brezina, Stefanie Buchanan, Daniel D. Cao, Yin Chan, Andrew T. Chang-Claude, Jenny Connolly, Charles M. Drew, David A. Farris III, Alton Brad Figueiredo, Jane C. French, Amy J. Fuchs, Charles S. Garraway, Levi A. Gruber, Steve Guinter, Mark A. Hamilton, Stanley R. Harlid, Sophia Heisler, Lawrence E. Hidaka, Akihisa Hopper, John L. Huang, Wen-Yi Huyghe, Jeroen R. Jenkins, Mark A. Krzyzanowski, Paul M. Lemire, Mathieu Lin, Yi Luo, Xuemei Mardis, Elaine R. McPherson, John D. Miller, Jessica K. Moreno Aguado, Víctor Mu, Xinmeng Jasmine Nishihara, Reiko Papadopoulos, Nikolaos G. Pasternack, Danielle Quist, Michael J. Rafikova, Adilya Reid, Emma E. G. Shinbrot, Eve Shirts, Brian H. Stein, Lincoln D. Teney, Cherie D. Timms, Lee Um, Caroline Y. Van Guelpen, Bethany Van Tassel, Megan Wang, Xiaolong Wheeler, David A. Yung, Christina K. Hsu, Li Ogino, Shuji Gsur, Andrea Newcomb, Polly A. Gallinger, Steven Hoffmeister, Michael Campbell, Peter T. Thibodeau, Stephen N. Sun, Wei Hudson, Thomas J. Peters, Ulrike |
Keywords: | Càncer colorectal Carcinogènesi Colorectal cancer Carcinogenesis |
Issue Date: | 20-Jul-2020 |
Publisher: | Nature Publishing Group |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-020-17386-z |
It is part of: | Nature Communications, 2020, vol. 11 |
URI: | http://hdl.handle.net/2445/173462 |
Related resource: | https://doi.org/10.1038/s41467-020-17386-z |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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