Ontology highlight
ABSTRACT:
SUBMITTER: Bainbridge MN
PROVIDER: S-EPMC4296199 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Journal of the National Cancer Institute 20141207 1
Gliomas are the most common brain tumor, with several histological subtypes of various malignancy grade. The genetic contribution to familial glioma is not well understood. Using whole exome sequencing of 90 individuals from 55 families, we identified two families with mutations in POT1 (p.G95C, p.E450X), a member of the telomere shelterin complex, shared by both affected individuals in each family and predicted to impact DNA binding and TPP1 binding, respectively. Validation in a separate cohor ...[more]