Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

ABSTRACT: Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children^1,2, and genetic events that cooperate with known somatic driver events are poorly understood. Pathogenic germline variants in established cancer predisposition genes have been recently identified in 5% of patients with the malignant brain tumour medulloblastoma³. Here, by analysing all protein-coding genes, we identify and replicate rare germline loss-of-function variants across ELP1 in 14% of paediatric patients with the medulloblastoma subgroup Sonic Hedgehog (MB_SHH)_. ELP1 was the most comm

SUBMITTER: Waszak SM 

PROVIDER: S-EPMC7430762 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature