TY - JOUR
T1 - Genome-wide analysis of genetic alterations in testicular primary seminoma using high resolution single nucleotide polymorphism arrays
AU - LeBron, Cynthia
AU - Pal, Prodipto
AU - Brait, Mariana
AU - Dasgupta, Santanu
AU - Guerrero-Preston, Rafael
AU - Looijenga, Leendert H.J.
AU - Kowalski, Jeanne
AU - Netto, George
AU - Hoque, Mohammad O.
PY - 2011/6
Y1 - 2011/6
N2 - Testicular germ cell tumors (TGCT) represent the most common malignancy among young males. To our knowledge no comprehensive Copy Number Variation (CNVs) studies of TGCT using high-resolution Single Nucleotide Polymorphism (SNP) array have been performed. By a genome-wide analysis of CNV and loss of heterozygosity (LOH) in 25 primary seminomas, we confirmed several previously reported genomic alterations and discovered eight novel genomic alterations including amplifications and homozygous deletions. Moreover, a comparison of genomic alterations of early and late stage seminoma identified CNVs that correlate with progression, which included deletions in chromosomes 4q, 5p, 9q, 13q and 20p and amplifications in chromosomes 9q and 13q. We compared previously perform Affymetrix expression analysis in a subset of samples and found robust correlation between expression and genomic alterations. Furthermore, high correlations (40-75%) were observed between CNV by SNP analysis and quantitative PCR. Our findings may lead to better understanding of TGTC's pathogenesis.
AB - Testicular germ cell tumors (TGCT) represent the most common malignancy among young males. To our knowledge no comprehensive Copy Number Variation (CNVs) studies of TGCT using high-resolution Single Nucleotide Polymorphism (SNP) array have been performed. By a genome-wide analysis of CNV and loss of heterozygosity (LOH) in 25 primary seminomas, we confirmed several previously reported genomic alterations and discovered eight novel genomic alterations including amplifications and homozygous deletions. Moreover, a comparison of genomic alterations of early and late stage seminoma identified CNVs that correlate with progression, which included deletions in chromosomes 4q, 5p, 9q, 13q and 20p and amplifications in chromosomes 9q and 13q. We compared previously perform Affymetrix expression analysis in a subset of samples and found robust correlation between expression and genomic alterations. Furthermore, high correlations (40-75%) were observed between CNV by SNP analysis and quantitative PCR. Our findings may lead to better understanding of TGTC's pathogenesis.
KW - Genome-wide analysis
KW - SNP array
KW - Seminoma
KW - Testicular cancer
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U2 - 10.1016/j.ygeno.2011.02.011
DO - 10.1016/j.ygeno.2011.02.011
M3 - Article
C2 - 21376111
AN - SCOPUS:79957483192
SN - 0888-7543
VL - 97
SP - 341
EP - 349
JO - Genomics
JF - Genomics
IS - 6
ER -