TY - JOUR
T1 - Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
AU - Jalali, Ali
AU - Amirian, E. Susan
AU - Bainbridge, Matthew N.
AU - Armstrong, Georgina N.
AU - Liu, Yanhong
AU - Tsavachidis, Spyros
AU - Jhangiani, Shalini N.
AU - Plon, Sharon E.
AU - Lau, Ching C.
AU - Claus, Elizabeth B.
AU - Barnholtz-Sloan, Jill S.
AU - Il'yasova, Dora
AU - Schildkraut, Joellen
AU - Ali-Osman, Francis
AU - Sadetzki, Siegal
AU - Johansen, Christoffer
AU - Houlston, Richard S.
AU - Jenkins, Robert B.
AU - Lachance, Daniel
AU - Olson, Sara H.
AU - Bernstein, Jonine L.
AU - Merrell, Ryan T.
AU - Wrensch, Margaret R.
AU - Davis, Faith G.
AU - Lai, Rose
AU - Shete, Sanjay
AU - Aldape, Kenneth
AU - Amos, Christopher I.
AU - Muzny, Donna M.
AU - Gibbs, Richard A.
AU - Melin, Beatrice S.
AU - Bondy, Melissa L.
N1 - Funding Information:
This work was supported by grants from the National Institutes of Health and NHGRI, Bethesda, Maryland (R01CA119215, R01CA070917, R01CA52689, P50097257, R01CA126831, U54HG003273, P30CA125123, K23CA158148, 5 R01CA138836, 5 P30 CA125123, R25NS070694). Additional support was provided by the McNair Medical Institute, the Population Sciences Biorespository at Baylor College of Medicine, the American Brain Tumor Association, and The National Brain Tumor Society. We would also like to thank the patients and their families for participating in this research.
PY - 2015/2/5
Y1 - 2015/2/5
N2 - 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.
AB - 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.
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U2 - 10.1038/srep08278
DO - 10.1038/srep08278
M3 - Article
C2 - 25652157
AN - SCOPUS:84954416682
SN - 2045-2322
VL - 5
JO - Scientific reports
JF - Scientific reports
M1 - 8278
ER -