Title |
EGFR Gene Variants Are Associated with Specific Somatic Aberrations in Glioma
|
---|---|
Published in |
PLOS ONE, December 2012
|
DOI | 10.1371/journal.pone.0047929 |
Pubmed ID | |
Authors |
Carl Wibom, Soma Ghasimi, Peter Van Loo, Thomas Brännström, Johan Trygg, Ching Lau, Roger Henriksson, Tommy Bergenheim, Ulrika Andersson, Patrik Rydén, Beatrice Melin |
Abstract |
A number of gene variants have been associated with an increased risk of developing glioma. We hypothesized that the reported risk variants may be associated with tumor genomic instability. To explore potential correlations between germline risk variants and somatic genetic events, we analyzed matched tumor and blood samples from 95 glioma patients by means of SNP genotyping. The generated genotype data was used to calculate genome-wide allele-specific copy number profiles of the tumor samples. We compared the copy number profiles across samples and found two EGFR gene variants (rs17172430 and rs11979158) that were associated with homozygous deletion at the CDKN2A/B locus. One of the EGFR variants (rs17172430) was also associated with loss of heterozygosity at the EGFR locus. Our findings were confirmed in a separate dataset consisting of matched blood and tumor samples from 300 glioblastoma patients, compiled from publically available TCGA data. These results imply there is a functional effect of germline EGFR variants on tumor progression. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Sweden | 1 | 6% |
Germany | 1 | 6% |
Unknown | 15 | 88% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 35% |
Student > Ph. D. Student | 3 | 18% |
Other | 2 | 12% |
Student > Doctoral Student | 1 | 6% |
Professor | 1 | 6% |
Other | 4 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 6 | 35% |
Medicine and Dentistry | 5 | 29% |
Agricultural and Biological Sciences | 5 | 29% |
Computer Science | 1 | 6% |