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

N Bainbridge, Matthew; N Armstrong, Georgina; Monica Gramatges, M; A Bertuch, Alison; N Jhangiani, Shalini; Doddapaneni, Harsha; Lewis, Lora; Tombrello, Joseph; Tsavachidis, Spyros; Liu, Yanhong; Jalali, Ali; E Plon, Sharon; C Lau, Ching; W Parsons, Donald; B Claus, Elizabeth; Barnholtz-Sloan, Jill; Il'yasova, Dora; Schildkraut, Joellen; Ali-Osman, Francis; Sadetzki, Siegal; Johansen, Christoffer; S Houlston, Richard; B Jenkins, Robert; Lachance, Daniel; H Olson, Sara; L Bernstein, Jonine; T Merrell, Ryan; R Wrensch, Margaret; M Walsh, Kyle; G Davis, Faith; Lai, Rose; Shete, Sanjay; Aldape, Kenneth; I Amos, Christopher; A Thompson, Patricia; M Muzny, Donna; A Gibbs, Richard; S Melin, Beatrice; L Bondy, Melissa; Consortium, Gliogene

doi:10.1093/jnci/dju384

Public

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

Shared by NobleBlocks on Jan 1, 2015 • 12:00 AM UTC

Authors:

Matthew N Bainbridge

Georgina N Armstrong

M Monica Gramatges

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.E...

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