Article
Germline mutations in shelterin complex genes are associated with familial glioma.
Journal of the National Cancer Institute - 1 Jan 2015
Bainbridge Matthew N, Armstrong Georgina N, Gramatges M Monica, Bertuch Alison A, Jhangiani Shalini N, Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, Jalali Ali, Plon Sharon E, Lau Ching C, Parsons Donald W, Claus Elizabeth B, Barnholtz-Sloan Jill, Il'yasova Dora, Schildkraut Joellen, Ali-Osman Francis, Sadetzki Siegal, Johansen Christoffer, Houlston Richard S, Jenkins Robert B, Lachance Daniel, Olson Sara H, Bernstein Jonine L, Merrell Ryan T, Wrensch Margaret R, Walsh Kyle M, Davis Faith G, Lai Rose, Shete Sanjay, Aldape Kenneth, Amos Christopher I, Thompson Patricia A, Muzny Donna M, Gibbs Richard A, Melin Beatrice S, Bondy Melissa L
Abstract excerpt
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...
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