Array-based detection of chromosomal aberrations in malignant neoplasias

作者：Baudis M; Giefing M; Cai H; Kumar N; Vater I; Richter J; Siebert R^*

来源：Medizinische Genetik, 2012, 24(2): 114-122.

DOI：10.1007/s11825-012-0328-x

• Array comparative genomic hybridization
• Single nucleotide polymorphism
• Loss of heterozygosity
• Cancer genetics
• Chromosomal imbalances

Over the last decade, array-based methods for the detection of genomic imbalances have gained increasing importance in the field of cancer genetics. With their particular platform-specific advantages and disadvantages, different array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) array-based technologies can be utilized according to the question addressed, the material to be analyzed and the resolution targeted. In contrast to array CGH-based technologies, SNP-based arrays allow the simultaneous detection of copy-neutral loss of heterozygosity in addition to the diagnosis of chromosomal imbalances. In all array-based approaches it should be borne in mind that tumors are usually a mixture of clonal neoplastic and normal cells and that some aberrations might be subclonal. Applications of array-based imbalance mapping in cancer include the characterization of pathogenetically relevant imbalances, the definition of molecular or clinical subgroups of tumors or the identification of targets for individualized therapy.

• 出版日期2012-6