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Updated: Jun 28, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Somatic mutation signatures of cancer
Stephen R Piccolo1, Lewis J Frey
1University of Utah, UT, USA.
Abstract:
The advancement of cancer diagnosis, prognosis, and treatment would be hastened via a robust method to identify patterns that indicate a tumor's state. Prior research has established that sporadic, colorectal-cancer pathogenesis involves a series of genetic mutations that allow benign polyps to develop and eventually progress to malignant tumors in distinguishable patterns. Using a publicly available database of somatic mutations for many cancer types, we identified somatic-mutation signatures. Our results for colorectal cancer are consistent with what extant biological models as described in the literature. This approach is potentially useful for identifying previously undiscovered patterns and generating hypotheses related to biological pathways. Such signatures could prove valuable for eventual translation into clinical practice.
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