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@ARTICLE{Aglago:291763,
author = {E. K. Aglago and C. Qu and S. Harlid and A. I. Phipps and
R. S. Steinfelder and S. Ogino and C. E. Thomas and L. Hsu
and A. E. Toland and H. Brenner$^*$ and S. I. Berndt and D.
D. Buchanan and P. T. Campbell and Y. Cao and A. T. Chan and
D. A. Drew and J. C. Figueiredo and A. J. French and S.
Gallinger and P. Georgeson and M. Giannakis and E. L. Goode
and S. B. Gruber and M. J. Gunter and T. A. Harrison and M.
Hoffmeister$^*$ and W.-Y. Huang and M. A. Hullar and J. R.
Huyghe and M. A. Jenkins and B. M. Lynch and V. Moreno and
N. Murphy and C. C. Newton and J. A. Nowak and M.
Obón-Santacana and W. Sun and T. Ugai and C. Y. Um and S.
H. Zaidi and K. K. Tsilidis and B. van Guelpen and U.
Peters},
title = {{F}olate intake and colorectal cancer risk according to
genetic subtypes defined by targeted tumor sequencing.},
journal = {The American journal of clinical nutrition},
volume = {120},
number = {3},
issn = {0095-9871},
address = {Amsterdam},
publisher = {Elsevier},
reportid = {DKFZ-2024-01499},
pages = {664-673},
year = {2024},
note = {2024 Sep;120(3):664-673},
abstract = {Folate is involved in multiple genetic, epigenetic, and
metabolic processes, and inadequate folate intake has been
associated with an increased risk of cancer.We examined
whether folate intake is differentially associated with
colorectal cancer (CRC) risk according to somatic mutations
in genes linked to CRC using targeted
sequencing.Participants within two large CRC consortia with
available information on dietary folate, supplemental folic
acid, and total folate intake were included. Colorectal
tumor samples from cases were sequenced for the presence of
non-silent mutations in 105 genes and 6 signaling pathways
(IGF2/PI3K, MMR, RTK/RAS, TGF-β, WNT, TP53/ATM).
Multinomial logistic regression models were run comparing
mutated/non-mutated CRC cases to controls to compute
multivariable-adjusted odds ratios (ORs) with $95\%$
confidence intervals (CI). Heterogeneity of associations of
mutated versus non-mutated CRC cases was tested in case-only
analyses using logistic regression. Analyses were performed
separately in hypermutated and non-hypermutated tumors, as
they exhibit different clinical behaviors.We included 4,339
CRC cases (702 hypermutated tumors, $16.2\%)$ and 11,767
controls. Total folate intake was inversely associated with
CRC risk (OR=0.93, $95\%CI=0.90-0.96).$ Among hypermutated
tumors, 12 genes (AXIN2, B2M, BCOR, CHD1, DOCK3, FBLN2,
MAP3K21, POLD1, RYR1, TET2, UTP20, ZNF521) showed nominal
statistical significance (P<0.05) for heterogeneity by
mutation status, but none remained significant after
multiple testing correction. Among these genetic subtypes,
the associations between folate variables and CRC were
mostly inverse or towards the null, except for tumors
mutated for DOCK3 (supplemental folic acid), CHD1 (total
folate), and ZNF521 (dietary folate) that showed positive
associations. We did not observe differential associations
in analyses among non-hypermutated tumors, or according to
the signaling pathways.Folate intake was not differentially
associated with CRC risk according to mutations in the genes
explored. The nominally significant differential mutation
effects observed in a few genes warrants further
investigation.},
keywords = {colorectal cancer (Other) / folate (Other) / folic acid
(Other) / molecular subtypes (Other) / somatic mutations
(Other) / tumor (Other)},
cin = {C070 / C120 / HD01},
ddc = {570},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
I:(DE-He78)HD01-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39025327},
doi = {10.1016/j.ajcnut.2024.07.012},
url = {https://inrepo02.dkfz.de/record/291763},
}