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@ARTICLE{Ahmad:212514,
author = {O. Ahmad$^*$ and A. Försti$^*$},
title = {{T}he complementary roles of genome-wide approaches in
identifying genes linked to an inherited risk of colorectal
cancer.},
journal = {Hereditary cancer in clinical practice},
volume = {21},
number = {1},
issn = {1731-2302},
address = {Heidelberg},
publisher = {Springer},
reportid = {DKFZ-2023-00199},
pages = {1},
year = {2023},
note = {#LA:B062#EA:B062#},
abstract = {The current understanding of the inherited risk of
colorectal cancer (CRC) started with an observational
clinical era in the late 19th century, which was followed by
a genetic era starting in the late 20th century. Genome-wide
linkage analysis allowed mapping several high-risk genes,
which marked the beginning of the genetic era. The current
high-throughput genomic phase includes genome-wide
association study (GWAS) and genome-wide sequencing
approaches which have revolutionized the conception of the
inherited risk of CRC. On the one hand, GWAS has allowed the
identification of multiple low risk loci correlated with
CRC. On the other, genome-wide sequencing has led to the
discovery of a second batch of high-to-moderate-risk genes
that correlate to atypical familial CRC and polyposis
syndromes. In contrast to other common cancers, which are
usually dominated by a polygenic background, CRC risk is
believed to be equally explained by monogenic and polygenic
architectures, which jointly contribute to a quarter of
familial clustering. Despite the fact that genome-wide
approaches have allowed the identification of a continuum of
responsible high-to-moderate-to-low-risk variants, much of
the predisposition and familial clustering of CRC has not
yet been explained. Other genetic, epigenetic and
environmental factors might be playing important roles as
well. In this review we aim to provide insights on the
complementary roles played by different genomic approaches
in allowing the current understanding of the genetic
architecture of inherited CRC.},
subtyp = {Review Article},
keywords = {CRC (Other) / Cancer predisposition (Other) / GWAS (Other)
/ Genome-wide (Other) / High-risk gene (Other) / Inherited
Cancer (Other) / Low-risk gene (Other) / WGS (Other)},
cin = {B062 / HD01},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36707860},
pmc = {pmc:PMC9883872},
doi = {10.1186/s13053-023-00245-5},
url = {https://inrepo02.dkfz.de/record/212514},
}