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@ARTICLE{Villani:124437,
author = {A. Villani and M. C. Greer and J. M. Kalish and A.
Nakagawara and K. L. Nathanson and K. Pajtler$^*$ and S.
Pfister$^*$ and M. F. Walsh and J. D. Wasserman and K.
Zelley and C. P. Kratz},
title = {{R}ecommendations for {C}ancer {S}urveillance in
{I}ndividuals with {RAS}opathies and {O}ther {R}are
{G}enetic {C}onditions with {I}ncreased {C}ancer {R}isk.},
journal = {Clinical cancer research},
volume = {23},
number = {12},
issn = {1557-3265},
address = {Philadelphia, Pa. [u.a.]},
publisher = {AACR},
reportid = {DKFZ-2017-01314},
pages = {e83 - e90},
year = {2017},
abstract = {In October 2016, the American Association for Cancer
Research held a meeting of international childhood cancer
predisposition syndrome experts to evaluate the current
knowledge of these syndromes and to propose consensus
surveillance recommendations. Herein, we summarize clinical
and genetic aspects of RASopathies and Sotos, Weaver,
Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as
well as specific metabolic disorders known to be associated
with increased childhood cancer risk. In addition, the
expert panel reviewed whether sufficient data exist to make
a recommendation that all patients with these disorders be
offered cancer surveillance. For all syndromes, the panel
recommends increased awareness and prompt assessment of
clinical symptoms. Patients with Costello syndrome have the
highest cancer risk, and cancer surveillance should be
considered. Regular physical examinations and complete blood
counts can be performed in infants with Noonan syndrome if
specific PTPN11 or KRAS mutations are present, and in
patients with CBL syndrome. Also, the high brain tumor risk
in patients with L-2 hydroxyglutaric aciduria may warrant
regular screening with brain MRIs. For most syndromes,
surveillance may be needed for nonmalignant health problems.
Clin Cancer Res; 23(12); e83-e90. ©2017 AACRSee all
articles in the online-only CCR Pediatric Oncology Series.},
subtyp = {Review Article},
cin = {B062 / L101},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:28620009},
doi = {10.1158/1078-0432.CCR-17-0631},
url = {https://inrepo02.dkfz.de/record/124437},
}