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

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

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 yiel...

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Main Authors: Jalali, Ali, Amirian, E. Susan, Bainbridge, Matthew N., Armstrong, Georgina N., Liu, Yanhong, Tsavachidis, Spyros, Jhangiani, Shalini N., Plon, Sharon E., Lau, Ching C., Claus, Elizabeth B., Barnholtz-Sloan, Jill S., Il'yasova, Dora, Schildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Johansen, Christoffer, Houlston, Richard S., Jenkins, Robert B., Lachance, Daniel, Olson, Sara H., Bernstein, Jonine L., Merrell, Ryan T., Wrensch, Margaret R., Davis, Faith G., Lai, Rose, Shete, Sanjay, Aldape, Kenneth, Amos, Christopher I., Muzny, Donna M., Gibbs, Richard A., Melin, Beatrice S., Bondy, Melissa L.
Format: Online
Language:English
Published: Nature Publishing Group 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317686/
id pubmed-4317686
recordtype oai_dc
spelling pubmed-43176862015-02-11 Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium Jalali, Ali Amirian, E. Susan Bainbridge, Matthew N. Armstrong, Georgina N. Liu, Yanhong Tsavachidis, Spyros Jhangiani, Shalini N. Plon, Sharon E. Lau, Ching C. Claus, Elizabeth B. Barnholtz-Sloan, Jill S. Il'yasova, Dora Schildkraut, Joellen Ali-Osman, Francis Sadetzki, Siegal Johansen, Christoffer Houlston, Richard S. Jenkins, Robert B. Lachance, Daniel Olson, Sara H. Bernstein, Jonine L. Merrell, Ryan T. Wrensch, Margaret R. Davis, Faith G. Lai, Rose Shete, Sanjay Aldape, Kenneth Amos, Christopher I. Muzny, Donna M. Gibbs, Richard A. Melin, Beatrice S. Bondy, Melissa L. Article 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. Nature Publishing Group 2015-02-05 /pmc/articles/PMC4317686/ /pubmed/25652157 http://dx.doi.org/10.1038/srep08278 Text en Copyright © 2015, Macmillan Publishers Limited. All rights reserved http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder in order to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Jalali, Ali
Amirian, E. Susan
Bainbridge, Matthew N.
Armstrong, Georgina N.
Liu, Yanhong
Tsavachidis, Spyros
Jhangiani, Shalini N.
Plon, Sharon E.
Lau, Ching C.
Claus, Elizabeth B.
Barnholtz-Sloan, Jill S.
Il'yasova, Dora
Schildkraut, Joellen
Ali-Osman, Francis
Sadetzki, Siegal
Johansen, Christoffer
Houlston, Richard S.
Jenkins, Robert B.
Lachance, Daniel
Olson, Sara H.
Bernstein, Jonine L.
Merrell, Ryan T.
Wrensch, Margaret R.
Davis, Faith G.
Lai, Rose
Shete, Sanjay
Aldape, Kenneth
Amos, Christopher I.
Muzny, Donna M.
Gibbs, Richard A.
Melin, Beatrice S.
Bondy, Melissa L.
spellingShingle Jalali, Ali
Amirian, E. Susan
Bainbridge, Matthew N.
Armstrong, Georgina N.
Liu, Yanhong
Tsavachidis, Spyros
Jhangiani, Shalini N.
Plon, Sharon E.
Lau, Ching C.
Claus, Elizabeth B.
Barnholtz-Sloan, Jill S.
Il'yasova, Dora
Schildkraut, Joellen
Ali-Osman, Francis
Sadetzki, Siegal
Johansen, Christoffer
Houlston, Richard S.
Jenkins, Robert B.
Lachance, Daniel
Olson, Sara H.
Bernstein, Jonine L.
Merrell, Ryan T.
Wrensch, Margaret R.
Davis, Faith G.
Lai, Rose
Shete, Sanjay
Aldape, Kenneth
Amos, Christopher I.
Muzny, Donna M.
Gibbs, Richard A.
Melin, Beatrice S.
Bondy, Melissa L.
Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
author_facet Jalali, Ali
Amirian, E. Susan
Bainbridge, Matthew N.
Armstrong, Georgina N.
Liu, Yanhong
Tsavachidis, Spyros
Jhangiani, Shalini N.
Plon, Sharon E.
Lau, Ching C.
Claus, Elizabeth B.
Barnholtz-Sloan, Jill S.
Il'yasova, Dora
Schildkraut, Joellen
Ali-Osman, Francis
Sadetzki, Siegal
Johansen, Christoffer
Houlston, Richard S.
Jenkins, Robert B.
Lachance, Daniel
Olson, Sara H.
Bernstein, Jonine L.
Merrell, Ryan T.
Wrensch, Margaret R.
Davis, Faith G.
Lai, Rose
Shete, Sanjay
Aldape, Kenneth
Amos, Christopher I.
Muzny, Donna M.
Gibbs, Richard A.
Melin, Beatrice S.
Bondy, Melissa L.
author_sort Jalali, Ali
title Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
title_short Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
title_full Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
title_fullStr Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
title_full_unstemmed Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
title_sort targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the gliogene consortium
description 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.
publisher Nature Publishing Group
publishDate 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317686/
_version_ 1613184364324061184

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