Abstract
Glioma is a rare, but highly fatal, cancer that accounts for the majority of malignant primary brain tumors. Inherited predisposition to glioma has been consistently observed within non-syndromic families. Our previous studies, which involved non-parametric and parametric linkage analyses, both yielded significant linkage peaks on chromosome 17q. Here, we use data from next generation and Sanger sequencing to identify familial glioma candidate genes and variants on chromosome 17q for further investigation. We applied a filtering schema to narrow the original list of 4830 annotated variants down to 21 very rare (<0.1% frequency), non-synonymous variants. Our findings implicate the MYO19 and KIF18B genes and rare variants in SPAG9 and RUNDC1 as candidates worthy of further investigation. Burden testing and functional studies are planned.
Highlights
But highly fatal, cancer that accounts for the majority of malignant primary brain tumors
Because the genetic basis of familial glioma remains enigmatic, the ‘‘Genetic Epidemiology of Glioma International Consortium’’ (Gliogene Consortium) was formed in 2006 to recruit families affected by glioma in 14 different institutions across five countries[11,13,14]
This consortium has provided an unprecedented opportunity to further our understanding of the heritability of this rare, though highly fatal, condition, with the ultimate goal of uncovering enough information about glioma susceptibility to allow for the screening and genetic counseling of high-risk individuals and families
Summary
But highly fatal, cancer that accounts for the majority of malignant primary brain tumors. We use data from generation and Sanger sequencing to identify familial glioma candidate genes and variants on chromosome 17q for further investigation. Because the genetic basis of familial glioma remains enigmatic, the ‘‘Genetic Epidemiology of Glioma International Consortium’’ (Gliogene Consortium) was formed in 2006 to recruit families affected by glioma in 14 different institutions across five countries[11,13,14] This consortium has provided an unprecedented opportunity to further our understanding of the heritability of this rare, though highly fatal, condition, with the ultimate goal of uncovering enough information about glioma susceptibility to allow for the screening and genetic counseling of high-risk individuals and families. Because of the concordance between these prior findings, we conducted targeted sequencing focused on this region of chromosome 17q, with the aim of identifying the variant(s) or gene(s) that could explain linkage across this region to familial glioma. We characterized deleterious rare variants within this chromosomal region among these glioma families
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