Title | Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Jalali, A, E Amirian, S, Bainbridge, MN, Armstrong, GN, Liu, Y, Tsavachidis, S, Jhangiani, SN, Plon, SE, Lau, CC, Claus, EB, Barnholtz-Sloan, JS, 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, Davis, FG, Lai, R, Shete, S, Aldape, K, Amos, CI, Muzny, DM, Gibbs, RA, Melin, BS, Bondy, ML |
Journal | Sci Rep |
Volume | 5 |
Pagination | 8278 |
Date Published | 2015 Feb 05 |
ISSN | 2045-2322 |
Keywords | Adult, Brain Neoplasms, Chromosomes, Human, Pair 17, Family, Female, Genetic Linkage, Genetic Variation, Glioma, Humans, Male, Middle Aged, Mutation, Pedigree, Sequence Analysis, DNA, Young Adult |
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. |
DOI | 10.1038/srep08278 |
Alternate Journal | Sci Rep |
PubMed ID | 25652157 |
PubMed Central ID | PMC4317686 |
Grant List | R01CA126831 / CA / NCI NIH HHS / United States R01CA070917 / CA / NCI NIH HHS / United States U54HG003273 / HG / NHGRI NIH HHS / United States K23 CA158148 / CA / NCI NIH HHS / United States 5 P30CA125123 / CA / NCI NIH HHS / United States R01 CA126831 / CA / NCI NIH HHS / United States R25 NS070694 / NS / NINDS NIH HHS / United States R01 CA138836 / CA / NCI NIH HHS / United States P30 CA125123 / CA / NCI NIH HHS / United States P50 CA097257 / CA / NCI NIH HHS / United States R01 CA070917 / CA / NCI NIH HHS / United States R25NS070694 / NS / NINDS NIH HHS / United States R01CA119215 / CA / NCI NIH HHS / United States P50097257 / / PHS HHS / United States K23CA158148 / CA / NCI NIH HHS / United States R01 CA052689 / CA / NCI NIH HHS / United States P30CA125123 / CA / NCI NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States P30 CA023108 / CA / NCI NIH HHS / United States 5 R01CA138836 / CA / NCI NIH HHS / United States R01 CA119215 / CA / NCI NIH HHS / United States R01CA52689 / CA / NCI NIH HHS / United States |
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium.
Similar Publications
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. Blood. 2024;143(18):1845-1855. | .
Identification of potent pan-ephrin receptor kinase inhibitors using DNA-encoded chemistry technology. Proc Natl Acad Sci U S A. 2024;121(19):e2322934121. | .
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024;9(9). | .