Somatic mutation signatures of cancer

AMIA Annu Symp Proc. 2008 Nov 6:2008:202-6.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics*
  • Databases, Factual
  • Genetic Markers / genetics*
  • Humans
  • Mutation / genetics*
  • Neoplasm Proteins / genetics*

Substances

  • Biomarkers, Tumor
  • Genetic Markers
  • Neoplasm Proteins