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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
Colorectal cancer
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:
It is part of: Nature Communications, 2020, vol. 11
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Appears in Collections:Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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