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000124437 0247_ $$2doi$$a10.1158/1078-0432.CCR-17-0631
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000124437 0247_ $$2ISSN$$a1078-0432
000124437 0247_ $$2ISSN$$a1557-3265
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000124437 037__ $$aDKFZ-2017-01314
000124437 041__ $$aeng
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000124437 1001_ $$aVillani, Anita$$b0
000124437 245__ $$aRecommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
000124437 260__ $$aPhiladelphia, Pa. [u.a.]$$bAACR$$c2017
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000124437 520__ $$aIn October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance. For all syndromes, the panel recommends increased awareness and prompt assessment of clinical symptoms. Patients with Costello syndrome have the highest cancer risk, and cancer surveillance should be considered. Regular physical examinations and complete blood counts can be performed in infants with Noonan syndrome if specific PTPN11 or KRAS mutations are present, and in patients with CBL syndrome. Also, the high brain tumor risk in patients with L-2 hydroxyglutaric aciduria may warrant regular screening with brain MRIs. For most syndromes, surveillance may be needed for nonmalignant health problems. Clin Cancer Res; 23(12); e83-e90. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.
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000124437 7001_ $$aGreer, Mary-Louise C$$b1
000124437 7001_ $$aKalish, Jennifer M$$b2
000124437 7001_ $$aNakagawara, Akira$$b3
000124437 7001_ $$aNathanson, Katherine L$$b4
000124437 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian$$b5$$udkfz
000124437 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b6$$udkfz
000124437 7001_ $$aWalsh, Michael F$$b7
000124437 7001_ $$aWasserman, Jonathan D$$b8
000124437 7001_ $$aZelley, Kristin$$b9
000124437 7001_ $$aKratz, Christian P$$b10
000124437 773__ $$0PERI:(DE-600)2036787-9$$a10.1158/1078-0432.CCR-17-0631$$gVol. 23, no. 12, p. e83 - e90$$n12$$pe83 - e90$$tClinical cancer research$$v23$$x1557-3265$$y2017
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