TY  - JOUR
AU  - Sturm, Dominik
AU  - Sutter, Christian
AU  - Sahm, Felix
AU  - Hinderhofer, Katrin
AU  - Kratz, Christian
AU  - Schrimpf, Daniel
AU  - von Deimling, Andreas
AU  - Pajtler, Kristian
AU  - Jones, David
AU  - Pfister, Stefan
AU  - Dikow, Nicola
AU  - Grund, Kerstin
PY  - 2017
DA  - 2017/12/05
TI  - Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families
JO  - OBM Genetics
SP  - 011
VL  - 01
IS  - 04
AB  - The MNP 2.0 study offers a specified oncologic diagnosis and the detection of possible therapeutic targets for a large cohort of pediatric neurooncologic patients. With the parents / patients agreement the study also performs germline analysis of all included patients and thereby translates scientific analysis in medical genetic care. This requires a workflow in consideration of the conditions of a multicenter study and the legal stipulations, as well as a closed interdisciplinary cooperation. We present our elaborated workflow, illustrated by four cases of patients that were diagnosed with different cancer predisposition syndromes (CPS). The diagnosis of the CPS and subsequent family analysis were of substantial importance for all presented cases. Germline analysis within the ongoing MNP2.0 study will provide information about the prevalence and distribution of underlying germline mutations in a large and unbiased cohort of pediatric neurooncologic patients. Tumorentities with a high risk for underlying CPS will be identified.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1704011
DO  - 10.21926/obm.genet.1704011
ID  - Sturm2017
ER  -