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@ARTICLE{Weigl:136831,
author = {K. Weigl$^*$ and H. Thomsen$^*$ and Y. Balavarca$^*$ and J.
N. Hellwege and M. J. Shrubsole and H. Brenner$^*$},
title = {{G}enetic {R}isk {S}core {I}s {A}ssociated {W}ith
{P}revalence of {A}dvanced {N}eoplasms in a {C}olorectal
{C}ancer {S}creening {P}opulation.},
journal = {Gastroenterology},
volume = {155},
number = {1},
issn = {0016-5085},
address = {Stanford, Calif.},
publisher = {HighWire Press},
reportid = {DKFZ-2018-01269},
pages = {88 - 98.e10},
year = {2018},
abstract = {The presence of specific single nucleotide polymorphisms
(SNPs) can be used to calculate an individual's risk for
colorectal cancer (CRC), called a genetic risk score (GRS).
We investigated whether GRS can identify individuals with
clinically relevant neoplasms in a screening colonoscopy
population.We derived a GRS based on 48 SNPs associated with
CRC, identified in a comprehensive literature search. We
obtained genetic data from 1043 participants (50-79 years
old) in a screening colonoscopy study in Germany, recruited
from 2005 through 2013 (294 with advanced neoplasms, 249
with non-advanced adenoma (NAAs), and 500 without
neoplasms). Each participant was assigned a GRS by
aggregating their risk alleles (0, 1, or 2). Risk of
advanced neoplasms and NAA according to GRS was calculated
by multiple logistic regression. Risk advancement periods
were calculated. We replicated our findings using data from
a subset of the Tennessee Colorectal Polyp Study.An
increased GRS was associated with higher prevalence of
advanced neoplasms, but not NAAs. Participants in the middle
and upper tertiles of GRS had a 2.2-fold and 2.7-fold
increase in risk, respectively, of advanced neoplasms
compared to those in the lower tertile. Adjusted odds ratios
(ORs) were 1.09 $(95\%$ confidence interval [CI], 0.76-1.57)
for NAA in the middle tertile and 1.05 $(95\%$ CI,
0.70-1.55) for NAA in the upper tertile. The ORs were
largest for proximal advanced neoplasms for participants in
the middle tertile (OR, 3.55; $95\%$ CI 1.85-6.82) and the
upper tertile (OR, 3.61; $95\%$ CI 1.84-7.10). The risk
advancement period for medium vs low GRS was 13.4 years
$(95\%$ CI 4.8-22.0) and for high vs low GRS was 17.5 years
$(95\%$ CI, 7.8-27.3).In a genetic analysis of participants
in a CRC screening study in Germany, an increased GRS (based
on CRC-associated SNPs) was associated with increased
prevalence of advanced neoplasms. These findings might be
used in defining risk-adapted screening ages.},
cin = {C070 / G110 / C050 / L101},
ddc = {610},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)G110-20160331 /
I:(DE-He78)C050-20160331 / 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:29574091},
pmc = {pmc:PMC6035076},
doi = {10.1053/j.gastro.2018.03.030},
url = {https://inrepo02.dkfz.de/record/136831},
}