2014
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il’yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML, Consortium T. Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma. Journal Of The National Cancer Institute 2014, 107: dju384. PMID: 25482530, PMCID: PMC4296199, DOI: 10.1093/jnci/dju384.Peer-Reviewed Original ResearchConceptsShelterin complex genesDNA bindingComplex genesFamilial gliomaWhole-exome sequencingPOT1 mutationsCommon brain tumorTreatment of gliomaGenetic contributionAdditional mutationsOrigin of gliomasMutationsPOT1TPP1Exome sequencingHistological subtypesMalignancy gradeSeparate cohortBrain tumorsSpecific subtypesFuture diagnosticsGermline mutationsGliomasFamilySubtypes
2007
GLIOGENE—an International Consortium to Understand Familial Glioma
Malmer B, Adatto P, Armstrong G, Barnholtz-Sloan J, Bernstein JL, Claus E, Davis F, Houlston R, Il'yasova D, Jenkins R, Johansen C, Lai R, Lau C, McCarthy B, Nielsen H, Olson SH, Sadetzki S, Shete S, Wiklund F, Wrensch M, Yang P, Bondy M. GLIOGENE—an International Consortium to Understand Familial Glioma. Cancer Epidemiology Biomarkers & Prevention 2007, 16: 1730-1734. PMID: 17855690, DOI: 10.1158/1055-9965.epi-07-0081.Peer-Reviewed Original ResearchConceptsNew genomic regionsGlioma familiesSingle nucleotide polymorphism (SNP) approachFamilial gliomaGenomic regionsGlioma genesLinkage analysisGenesPolymorphism approachLinkage studiesInternational ConsortiumNorth AmericaFamilyLi-Fraumeni syndromeFamilial aggregationDevastating cancerLociTurcot syndromeGenetic syndromesConsortiumGliomagenesisInherited factorsType 1GliomasTuberous sclerosis