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@ARTICLE{Archambault:148822,
author = {A. N. Archambault and Y.-R. Su and J. Jeon and M. Thomas
and Y. Lin and D. V. Conti and A. K. Win and L. C. Sakoda
and I. Lansdorp-Vogelaar and E. F. Peterse and A. G. Zauber
and D. Duggan and A. N. Holowatyj and J. R. Huyghe and H.
Brenner$^*$ and M. Cotterchio and S. Bézieau and S. L.
Schmit and C. K. Edlund and M. C. Southey and R. J. MacInnis
and P. T. Campbell and J. Chang-Claude$^*$ and M. L.
Slattery and A. T. Chan and A. D. Joshi and M. Song and Y.
Cao and M. O. Woods and E. White and S. J. Weinstein and C.
M. Ulrich and M. Hoffmeister$^*$ and S. A. Bien and T. A.
Harrison and J. Hampe and C. I. Li and C. Schafmayer and K.
Offit and P. D. Pharoah and V. Moreno and A. Lindblom and A.
Wolk and A. H. Wu and L. Li and M. J. Gunter and A. Gsur and
T. O. Keku and R. Pearlman and D. T. Bishop and S.
Castellví-Bel and L. Moreira and P. Vodicka and E. Kampman
and G. G. Giles and D. Albanes and J. A. Baron and S. I.
Berndt and S. Brezina and S. Buch and D. D. Buchanan and A.
Trichopoulou and G. Severi and M.-D. Chirlaque and M.-J.
Sánchez and D. Palli and T. Kühn$^*$ and N. Murphy and A.
J. Cross and A. N. Burnett-Hartman and S. J. Chanock and A.
d. l. Chapelle and D. F. Easton and F. Elliott and D. R.
English and E. J. Feskens and L. M. FitzGerald and P. J.
Goodman and J. L. Hopper and T. J. Hudson and D. J. Hunter
and E. J. Jacobs and C. E. Joshu and S. Küry and S. D.
Markowitz and R. L. Milne and E. A. Platz and G. Rennert and
H. S. Rennert and F. R. Schumacher and R. S. Sandler and D.
Seminara and C. M. Tangen and S. N. Thibodeau and A. E.
Toland and F. J. van Duijnhoven and K. Visvanathan and L.
Vodickova and J. D. Potter and S. Männistö and K.
Weigl$^*$ and J. Figueiredo and V. Martín and S. C. Larsson
and P. S. Parfrey and W.-Y. Huang and H.-J. Lenz and J. E.
Castelao and M. Gago-Dominguez and V. Muñoz-Garzón and C.
Mancao and C. A. Haiman and L. R. Wilkens and E. Siegel and
E. Barry and B. Younghusband and B. Van Guelpen and S.
Harlid and A. Zeleniuch-Jacquotte and P. S. Liang and M. Du
and G. Casey and N. M. Lindor and L. Le Marchand and S. J.
Gallinger and M. A. Jenkins and P. A. Newcomb and S. B.
Gruber and R. E. Schoen and H. Hampel and D. A. Corley and
L. Hsu and U. Peters and R. B. Hayes},
title = {{C}umulative {B}urden of {C}olorectal {C}ancer-{A}ssociated
{G}enetic {V}ariants is {M}ore {S}trongly {A}ssociated
{W}ith {E}arly-onset vs {L}ate-onset {C}ancer.},
journal = {Gastroenterology},
volume = {158},
number = {5},
issn = {0016-5085},
address = {Philadelphia, Pa. [u.a.]},
publisher = {Saunders},
reportid = {DKFZ-2020-00014},
pages = {1274-1286.e12},
year = {2020},
note = {2020 Apr;158(5):1274-1286.e12.},
abstract = {Early-onset colorectal cancer (CRC, in persons younger than
50 years old) is increasing in incidence; yet, in the
absence of a family history of CRC, this population lacks
harmonized recommendations for prevention. We aimed to
determine whether a polygenic risk score (PRS) developed
from 95 CRC-associated common genetic risk variants was
associated with risk for early-onset CRC.We studied risk for
CRC associated with a weighted PRS in 12,197 participants
younger than 50 years old vs 95,865 participants 50 years or
older. PRS was calculated based on single-nucleotide
polymorphisms associated with CRC in a large-scale
genome-wide association study as of January 2019.
Participants were pooled from 3 large consortia that
provided clinical and genotyping data: the Colon Cancer
Family Registry, the Colorectal Transdisciplinary study, and
the Genetics and Epidemiology of Colorectal Cancer
Consortium and were all of genetically defined European
descent. Findings were replicated in an independent cohort
of 72,573 participants.Overall associations with CRC per
standard deviation of PRS were significant for early-onset
cancer, and were stronger compared with late-onset cancer (P
for interaction=.01); when we compared the highest PRS
quartile with the lowest, risk increased 3.7-fold for
early-onset CRC $(95\%$ CI, 3.28-4.24) vs 2.9-fold for
late-onset CRC $(95\%$ CI, 2.80-3.04). This association was
strongest for participants without a first-degree family
history of CRC (P for interaction=5.61x10-5). When we
compared the highest with the lowest quartiles in this
group, risk increased 4.3-fold for early-onset CRC $(95\%$
CI, 3.61-5.01) vs 2.9-fold for late-onset CRC $(95\%$ CI,
2.70-3.00). Sensitivity analyses were consistent with these
findings.In an analysis of associations with CRC per
standard deviation of PRS, we found the cumulative burden of
CRC-associated common genetic variants to associate with
early-onset cancer, and to be more strongly associated with
early-onset than late-onset cancer-particularly in the
absence of CRC family history. Analyses of PRS, along with
environmental and lifestyle risk factors, might identify
younger individuals who would benefit from preventative
measures.},
cin = {C070 / C120 / HD01 / C020},
ddc = {610},
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:31866242},
doi = {10.1053/j.gastro.2019.12.012},
url = {https://inrepo02.dkfz.de/record/148822},
}