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Germline mutations in shelterin complex genes are associated with familial glioma.

ABSTRACT: 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 cohort of 264 individuals from 246 families identified an additional mutation in POT1 (p.D617Efs), also predicted to disrupt TPP1 binding. All families with POT1 mutations had affected members with oligodendroglioma, a specific subtype of glioma more sensitive to irradiation. These findings are important for understanding the origin of glioma and could have importance for the future diagnostics and treatment of glioma.

SUBMITTER: Bainbridge MN 

PROVIDER: S-EPMC4296199 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

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Germline mutations in shelterin complex genes are associated with familial glioma.

Bainbridge Matthew N MN   Armstrong Georgina N GN   Gramatges M Monica MM   Bertuch Alison A AA   Jhangiani Shalini N SN   Doddapaneni Harsha H   Lewis Lora L   Tombrello Joseph J   Tsavachidis Spyros S   Liu Yanhong Y   Jalali Ali A   Plon Sharon E SE   Lau Ching C CC   Parsons Donald W DW   Claus Elizabeth B EB   Barnholtz-Sloan Jill J   Il'yasova Dora D   Schildkraut Joellen J   Ali-Osman Francis F   Sadetzki Siegal S   Johansen Christoffer C   Houlston Richard S RS   Jenkins Robert B RB   Lachance Daniel D   Olson Sara H SH   Bernstein Jonine L JL   Merrell Ryan T RT   Wrensch Margaret R MR   Walsh Kyle M KM   Davis Faith G FG   Lai Rose R   Shete Sanjay S   Aldape Kenneth K   Amos Christopher I CI   Thompson Patricia A PA   Muzny Donna M DM   Gibbs Richard A RA   Melin Beatrice S BS   Bondy Melissa L ML  

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]

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