Abstract 4728: Genome-wide analysis of genetic alterations in seminoma using high resolution single Nucleotide polymorphism (SNP) arrays

Testicular germ cell tumors (TGCT9s) represent the most common malignancy among young males between the ages 15-40 years. Many genomic alterations have been observed in testicular cancer, however very few of these alterations have been associated with deregulation of gene function. The impact of CNVs on cancer susceptibility and tumor progression is only recently been explored in different cancer types. To our knowledge no comprehensive studies of testicular cancer using high-resolution SNP array have been performed, partially due to the rarity of this disease and low resolution of previous cytogenetic techniques. To identify new genomic alterations we performed a genome-wide analysis of copy-number changes and loss of heterozygosity (LOH) in 24 seminomas and validated our findings by a complementary approach. We have also confirmed the several previously reported genomic alterations in seminoma and discovered eight novel genomic alterations including amplifications and homozygous deletions. Moreover, a comparison of genomic alterations of early stage and late stage identified CNV that correlate with progression which included deletions in chromosome 4q, 5p, 9q, 13q and 20p and amplifications in chromosomes 9q and 13q. CNV aberrations for candidate genes within selected regions these regions were further validated using quantitative PCR (QPCR). 40-75% correlation was observed between CNV by SNP analysis and QPCR. In conclusion, SNP microarrays are a valuable tool to measure and identify genomic alterations in seminoma, and we identified several genomic alterations, which may help pinpoint cancer causing genes and strengthen our understanding the biology of seminoma. Note: This abstract was not presented at the AACR 101st Annual Meeting 2010 because the presenter was unable to attend. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 4728.