The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

ABSTRACT:

Background

The defects in DNA repair genes are potentially linked to development and response to therapy in medulloblastoma. Therefore the purpose of this study was to establish the spectrum and frequency of germline variants in selected DNA repair genes and their impact on response to chemotherapy in medulloblastoma patients.

Methods

The following genes were investigated in 102 paediatric patients: MSH2 and RAD50 using targeted gene panel sequencing and NBN variants (p.I171V and p.K219fs*19) by Sanger sequencing. In three patients with presence of rare life-threatening adverse events (AE) and no detected variants in the analyzed genes, whole exome sequencing was performed. Based on combination of molecular and immunohistochemical evaluations tumors were divided into molecul

SUBMITTER: Trubicka J 

PROVIDER: S-EPMC5379555 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature