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@ARTICLE{Wagener:284384,
author = {R. Wagener$^*$ and D. Brandes and M. Jung and M. A. Huetzen
and A. K. Bergmann and S. Panier and D. Picard and U.
Fischer$^*$ and R. D. Jachimowicz and A. Borkhardt$^*$ and
T. Brozou},
title = {{O}ptical genome mapping identifies structural variants in
potentially new cancer predisposition candidate genes in
pediatric cancer patients.},
journal = {International journal of cancer},
volume = {154},
number = {4},
issn = {0020-7136},
address = {Bognor Regis},
publisher = {Wiley-Liss},
reportid = {DKFZ-2023-01978},
pages = {607-614},
year = {2024},
note = {2024 Feb 15;154(4):607-614},
abstract = {Genetic predisposition is one of the major risk factors for
pediatric cancer, with $~10\%$ of children being carriers of
a predisposing germline alteration. It is likely that this
is the tip of the iceberg and many children are
underdiagnosed, as most of the analysis focuses on single or
short nucleotide variants, not considering the full spectrum
of DNA alterations. Hence, we applied optical genome mapping
(OGM) to our cohort of 34 pediatric cancer patients to
perform an unbiased germline screening and analyze the
frequency of structural variants (SVs) and their impact on
cancer predisposition. All children were clinically highly
suspicious for germline alterations (concomitant conditions
or congenital anomalies, positive family cancer history,
particular cancer type, synchronous or metachronous tumors),
but whole exome sequencing (WES) had failed to detect
pathogenic variants in cancer predisposing genes. OGM
detected a median of 49 rare SVs (range 27-149) per patient.
By analysis of 18 patient-parent trios, we identified three
de novo SVs. Moreover, we discovered a likely pathogenic
deletion of exon 3 in the known cancer predisposition gene
BRCA2, and identified a duplication in RPA1, which might
represent a new cancer predisposition gene. We conclude that
optical genome mapping is a suitable tool for detecting
potentially predisposing SVs in addition to WES in pediatric
cancer patients.},
keywords = {cancer predisposition (Other) / optical genome mapping
(Other) / pediatric cancer (Other) / structural variants
(Other)},
cin = {ED01},
ddc = {610},
cid = {I:(DE-He78)ED01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:37776287},
doi = {10.1002/ijc.34721},
url = {https://inrepo02.dkfz.de/record/284384},
}