The “Hopp Children’s Cancer Center at the NCT Heidelberg” (KiTZ) is a joint initiative of Heidelberg University Hospital and the German Cancer Research Center (DKFZ).
Medulloblastoma is a rare malignant tumor of the cerebellum and occurs predominantly in children. Scientists believe that in many cases hereditary gene defects trigger the development of this malignant disease. However, there are no standards for routine genetic screening of patients, nor are there guidelines and a corresponding nationwide infrastructure for genetic counseling of affected families.
Scientists have now been able to characterize medulloblastoma more accurately and to derive recommendations for genetic testing based on analysis of 1022 patients with medulloblastoma. “We analyzed genes that have been previously implicated in predisposition to any type of pediatric and adult cancer”, says Sebastian Waszak from the EMBL Heidelberg who is one of the study’s lead authors. It turned out that six genes were also frequently affected by genetic alterations in patients with medulloblastoma.
Considering the six significantly enriched genes, about five percent of patients had an increased risk of cancer. Taking into account all cancer risk genes, about eleven percent of the patients had an increased cancer risk. Looking at a particular tumor subgroup, the so
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