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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 19, 2013
Patterns of genomic imbalances in human solid tumors (Review)
1Institute of Human Genetics, University of Erlangen-Nurnberg, D-91054 Erlangen, Germany.
Abstract:
Based on comparative studies on CGH-detected genomic imbalances in head and neck squamous cell carcinomas and in ovarian tumors it was supposed that the patterns of genomic imbalances in human tumors are not only related to the oncogenic progress and tumor progression or specific for the tissue of origin, but also could be influenced by environmental (mutagenic) factors present in the environment of the evolving cancer. To base this hypothesis on a more solid ground, data obtained by use of comparative genomic hybridization (CGH) which were reported up to early 1999 from a large variety of more than 2400 human solid tumors, representing 18 different organs of origin or physical localizations, were collected and comparatively analyzed. Patterns of inter- and intra-chromosomal distribution of DNA sequence copy number changes pointed to high conformity on several chromosomal segments, but also revealed striking differences between the tumor types, the latter suggesting tumor specific, tissue specific and/or environment specific influences on the generation of genomic imbalance in human neoplasia. The clinical relevance of these findings must be examined further on by increasing the studied material.
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