Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium

Ali Jalali, E. Susan Amirian, Matthew N. Bainbridge, Georgina N. Armstrong, Yanhong Liu, Spyros Tsavachidis, Shalini N. Jhangiani, Sharon E. Plon, Ching C. Lau, Elizabeth B. Claus, Jill S. Barnholtz-Sloan, Dora Il'yasova, Joellen Schildkraut, Francis Ali-Osman, Siegal Sadetzki, Christoffer Johansen, Richard S. Houlston, Robert B. Jenkins, Daniel Lachance, Sara H. OlsonJonine L. Bernstein, Ryan T. Merrell, Margaret R. Wrensch, Faith G. Davis, Rose Lai, Sanjay Shete, Kenneth Aldape, Christopher I. Amos, Donna M. Muzny, Richard A. Gibbs, Beatrice S. Melin, Melissa L. Bondy

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


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.

Original languageEnglish (US)
Article number8278
JournalScientific reports
StatePublished - Feb 5 2015

ASJC Scopus subject areas

  • General


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