TY - JOUR
T1 - Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer
AU - Andersson, Ulrika
AU - Wibom, Carl
AU - Cederquist, Kristina
AU - Aradottir, Steina
AU - Borg, Ake
AU - Armstrong, Georgina N
AU - Shete, Sanjay
AU - Lau, Ching C
AU - Bainbridge, Matthew N
AU - Claus, Elizabeth B
AU - Barnholtz-Sloan, Jill
AU - Lai, Rose
AU - Il'yasova, Dora
AU - Houlston, Richard S
AU - Schildkraut, Joellen
AU - Bernstein, Jonine L
AU - Olson, Sara H
AU - Jenkins, Robert B
AU - Lachance, Daniel H
AU - Wrensch, Margaret
AU - Davis, Faith G
AU - Merrell, Ryan
AU - Johansen, Christoffer
AU - Sadetzki, Siegal
AU - Bondy, Melissa L
AU - Melin, Beatrice S
AU - Gliogene Consortium
N1 - © The Author(s) 2014. Published by Oxford University Press on behalf of the Society for Neuro-Oncology.
PY - 2014
Y1 - 2014
N2 - BACKGROUND: Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers.METHODS: Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma.RESULTS: We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer.CONCLUSIONS: Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes.
AB - BACKGROUND: Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers.METHODS: Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma.RESULTS: We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer.CONCLUSIONS: Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes.
U2 - 10.1093/neuonc/nou052
DO - 10.1093/neuonc/nou052
M3 - Journal article
C2 - 24723567
VL - 16
SP - 1333
EP - 1340
JO - Neuro-Oncology
JF - Neuro-Oncology
SN - 1522-8517
IS - 10
ER -