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@ARTICLE{Schmit:143005,
author = {S. L. Schmit and C. K. Edlund and F. R. Schumacher and J.
Gong and T. A. Harrison and J. R. Huyghe and C. Qu and M.
Melas and D. J. Van Den Berg and H. Wang and S. Tring and S.
J. Plummer and D. Albanes and M. H. Alonso and C. I. Amos
and K. Anton and A. K. Aragaki and V. Arndt$^*$ and E. L.
Barry and S. I. Berndt and S. Bezieau and S. Bien and A.
Bloomer and J. Boehm and M.-C. Boutron-Ruault and H.
Brenner$^*$ and S. Brezina and D. D. Buchanan and K.
Butterbach$^*$ and B. J. Caan and P. T. Campbell and C. S.
Carlson and J. E. Castelao and A. T. Chan and J.
Chang-Claude$^*$ and S. J. Chanock and I. Cheng and Y.-W.
Cheng and L. S. Chin and J. M. Church and T. Church and G.
A. Coetzee and M. Cotterchio and M. Cruz Correa and K. R.
Curtis and D. Duggan and D. F. Easton and D. English and E.
J. M. Feskens and R. Fischer and L. M. FitzGerald and B. K.
Fortini and L. G. Fritsche and C. S. Fuchs and M.
Gago-Dominguez and M. Gala and S. J. Gallinger and W. J.
Gauderman and G. G. Giles and E. L. Giovannucci and S. M.
Gogarten and C. Gonzalez-Villalpando and E. M.
Gonzalez-Villalpando and W. M. Grady and J. K. Greenson and
A. Gsur and M. Gunter and C. A. Haiman and J. Hampe and S.
Harlid and J. F. Harju and R. B. Hayes and P. Hofer and M.
Hoffmeister$^*$ and J. L. Hopper and S.-C. Huang and J. M.
Huerta and T. J. Hudson and D. J. Hunter and G. E. Idos and
M. Iwasaki and R. D. Jackson and E. J. Jacobs and S. H. Jee
and M. A. Jenkins and W.-H. Jia and S. Jiao and A. D. Joshi
and L. N. Kolonel and S. Kono and C. Kooperberg and V. Krogh
and T. Kuehn and S. Küry and A. LaCroix and C. A. Laurie
and F. Lejbkowicz and M. Lemire and H.-J. Lenz and D. Levine
and C. I. Li and L. Li and W. Lieb and Y. Lin and N. M.
Lindor and Y.-R. Liu and F. Loupakis and Y. Lu and F. Luh
and J. Ma and C. Mancao and F. J. Manion and S. D. Markowitz
and V. Martin and K. Matsuda and K. Matsuo and K. J.
McDonnell and C. E. McNeil and R. Milne and A. J. Molina and
B. Mukherjee and N. Murphy and P. A. Newcomb and K. Offit
and H. Omichessan and D. Palli and J. P. P. Cotoré and J.
Pérez-Mayoral and P. D. Pharoah and J. D. Potter and C. Qu
and L. Raskin and G. Rennert and H. S. Rennert and B. M.
Riggs and C. Schafmayer and R. E. Schoen and T. A. Sellers
and D. Seminara and G. Severi and W. Shi and D. Shibata and
X.-O. Shu and E. M. Siegel and M. L. Slattery and M. Southey
and Z. K. Stadler and M. C. Stern and S. Stintzing and D.
Taverna and S. N. Thibodeau and D. C. Thomas and A.
Trichopoulou and S. Tsugane and C. M. Ulrich and F. J. B.
van Duijnhoven and B. van Guelpan and J. Vijai and J.
Virtamo and S. J. Weinstein and E. White and A. K. Win and
A. Wolk and M. Woods and A. H. Wu and K. Wu and Y.-B. Xiang
and Y. Yen and B. W. Zanke and Y.-X. Zeng and B. Zhang and
N. Zubair and S.-S. Kweon and J. C. Figueiredo and W. Zheng
and L. L. Marchand and A. Lindblom and V. Moreno and U.
Peters and G. Casey and L. Hsu and D. V. Conti and S. B.
Gruber},
title = {{N}ovel {C}ommon {G}enetic {S}usceptibility {L}oci for
{C}olorectal {C}ancer.},
journal = {Journal of the National Cancer Institute},
volume = {111},
number = {2},
issn = {1460-2105},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2019-00630},
pages = {146 - 157},
year = {2019},
abstract = {Previous genome-wide association studies (GWAS) have
identified 42 loci (P < 5 × 10-8) associated with risk
of colorectal cancer (CRC). Expanded consortium efforts
facilitating the discovery of additional susceptibility loci
may capture unexplained familial risk.We conducted a GWAS in
European descent CRC cases and control subjects using a
discovery-replication design, followed by examination of
novel findings in a multiethnic sample (cumulative n = 163
315). In the discovery stage (36 948 case subjects/30 864
control subjects), we identified genetic variants with a
minor allele frequency of $1\%$ or greater associated with
risk of CRC using logistic regression followed by a
fixed-effects inverse variance weighted meta-analysis. All
novel independent variants reaching genome-wide statistical
significance (two-sided P < 5 × 10-8) were tested for
replication in separate European ancestry samples (12 952
case subjects/48 383 control subjects). Next, we examined
the generalizability of discovered variants in East Asians,
African Americans, and Hispanics (12 085 case subjects/22
083 control subjects). Finally, we examined the
contributions of novel risk variants to familial relative
risk and examined the prediction capabilities of a polygenic
risk score. All statistical tests were two-sided.The
discovery GWAS identified 11 variants associated with CRC at
P < 5 × 10-8, of which nine (at
4q22.2/5p15.33/5p13.1/6p21.31/6p12.1/10q11.23/12q24.21/16q24.1/20q13.13)
independently replicated at a P value of less than .05.
Multiethnic follow-up supported the generalizability of
discovery findings. These results demonstrated a $14.7\%$
increase in familial relative risk explained by common risk
alleles from $10.3\%$ $(95\%$ confidence interval [CI] =
$7.9\%$ to $13.7\%;$ known variants) to $11.9\%$ $(95\%$ CI
= $9.2\%$ to $15.5\%;$ known and novel variants). A
polygenic risk score identified $4.3\%$ of the population at
an odds ratio for developing CRC of at least 2.0.This study
provides insight into the architecture of common genetic
variation contributing to CRC etiology and improves risk
prediction for individualized screening.},
cin = {C070 / C120 / C020 / L101},
ddc = {610},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
I:(DE-He78)C020-20160331 / I:(DE-He78)L101-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29917119},
doi = {10.1093/jnci/djy099},
url = {https://inrepo02.dkfz.de/record/143005},
}
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