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Nature Research, Scientific Reports, 1(5), 2015

DOI: 10.1038/srep08278

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Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium

Journal article published in 2015 by Ali Jalali, E. Susan Amirian, 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 ORCID, Dora Il'yasova, Joellen Schildkraut, Francis Ali-Osman and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractGlioma 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.