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@ARTICLE{Zaidi:157300,
author = {S. H. Zaidi and T. A. Harrison and A. I. Phipps and R.
Steinfelder and Q. M. Trinh and C. Qu and B. L. Banbury and
P. Georgeson and C. S. Grasso and M. Giannakis and J. B.
Adams and E. Alwers$^*$ and E. Amitay$^*$ and R. T. Barfield
and S. I. Berndt and I. Borozan and H. Brenner$^*$ and S.
Brezina and D. D. Buchanan and Y. Cao and A. T. Chan and J.
Chang-Claude$^*$ and C. M. Connolly and D. A. Drew and A. B.
Farris and J. C. Figueiredo and A. J. French and C. S. Fuchs
and L. A. Garraway and S. Gruber and M. A. Guinter and S. R.
Hamilton and S. Harlid and L. E. Heisler and A. Hidaka and
J. L. Hopper and W.-Y. Huang and J. R. Huyghe and M. A.
Jenkins and P. M. Krzyzanowski and M. Lemire and Y. Lin and
X. Luo and E. R. Mardis and J. D. McPherson and J. K. Miller
and V. Moreno and X. J. Mu and R. Nishihara and N.
Papadopoulos and D. Pasternack and M. J. Quist and A.
Rafikova and E. E. G. Reid and E. Shinbrot and B. H. Shirts
and L. D. Stein and C. D. Teney and L. Timms and C. Y. Um
and B. Van Guelpen and M. Van Tassel and X. Wang and D. A.
Wheeler and C. K. Yung and L. Hsu and S. Ogino and A. Gsur
and P. A. Newcomb and S. Gallinger and M. Hoffmeister$^*$
and P. T. Campbell and S. N. Thibodeau and W. Sun and T. J.
Hudson and U. Peters},
title = {{L}andscape of somatic single nucleotide variants and
indels in colorectal cancer and impact on survival.},
journal = {Nature Communications},
volume = {11},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2020-01543},
pages = {3644},
year = {2020},
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.},
cin = {C070 / C120 / HD01 / C020},
ddc = {500},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)C020-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32686686},
pmc = {pmc:PMC7371703},
doi = {10.1038/s41467-020-17386-z},
url = {https://inrepo02.dkfz.de/record/157300},
}