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Gene transfer permits both germline and somatic alterations.
Genetic somatic alterations are fundamental hallmarks of cancer.
Gene fusions represent an important class of somatic alterations in cancer.
Colon cancer is a genetic disease, propagated by the acquisition of somatic alterations that influence gene expression.
These PanIN lesions are in turn associated with somatic alterations in canonical oncogenes and tumor suppressor genes.
We systematically analyzed somatic alterations to provide a comprehensive view of DDR deficiency across 33 cancer types.
Beyond TP53, the RB1, ATRX, and DLG2 genes showed recurrent somatic alterations in 29%53%% of the tumors.
However, stochastic somatic alterations can occur at an average rate of 3 mutations per cell division in normal cells [1, 2].
Translation of these discoveries into clinical applications requires the development of genomic tests that can reliably detect such somatic alterations with high sensitivity and specificity.
Identification of somatic alterations has been greatly sped up by recent technological progresses, such as CGH and SNP arrays, and high-throughput DNA sequencing.
We hypothesize that somatic alterations in DNA damage response and repair (DDR) genes are associated with improved sensitivity to platinum-based chemotherapy.
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