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 Olson; Jonine 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

doi:10.1038/srep08278

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

27 Citations (Scopus)

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.

Original language	English
Journal	Scientific Reports
Volume	5
Pages (from-to)	8278
ISSN	2045-2322
DOIs	https://doi.org/10.1038/srep08278
Publication status	Published - 5 Feb 2015

Keywords

Adult
Brain Neoplasms/genetics
Chromosomes, Human, Pair 17
Family
Female
Genetic Linkage
Genetic Variation
Glioma/genetics
Humans
Male
Middle Aged
Mutation
Pedigree
Sequence Analysis, DNA
Young Adult

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Jalali, A., Amirian, E. S., Bainbridge, M. N., Armstrong, G. N., Liu, Y., Tsavachidis, S., Jhangiani, S. N., Plon, S. E., Lau, C. C., Claus, E. B., Barnholtz-Sloan, J. S., Il'yasova, D., Schildkraut, J., Ali-Osman, F., Sadetzki, S., Johansen, C., Houlston, R. S., Jenkins, R. B., Lachance, D., ... Bondy, M. L. (2015). Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Scientific Reports, 5, 8278. https://doi.org/10.1038/srep08278

Jalali, A, Amirian, ES, 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 2015, 'Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium', Scientific Reports, vol. 5, pp. 8278. https://doi.org/10.1038/srep08278

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title = "Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium",

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. ",

keywords = "Adult, Brain Neoplasms/genetics, Chromosomes, Human, Pair 17, Family, Female, Genetic Linkage, Genetic Variation, Glioma/genetics, Humans, Male, Middle Aged, Mutation, Pedigree, Sequence Analysis, DNA, Young Adult",

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

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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

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.

KW - Adult

KW - Brain Neoplasms/genetics

KW - Chromosomes, Human, Pair 17

KW - Family

KW - Female

KW - Genetic Linkage

KW - Genetic Variation

KW - Glioma/genetics

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Pedigree

KW - Sequence Analysis, DNA

KW - Young Adult

UR - https://www.scopus.com/pages/publications/84954416682

U2 - 10.1038/srep08278

DO - 10.1038/srep08278

M3 - Journal article

C2 - 25652157

SN - 2045-2322

VL - 5

SP - 8278

JO - Scientific Reports

JF - Scientific Reports

ER -

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

Abstract

Keywords

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