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About the Cancer Genome Characterization Initiative (CGCI)

The Cancer Genome Characterization Initiative (CGCI) supports cutting-edge genomics research on rare adult and pediatric cancers. CGCI investigators develop and apply advanced sequencing methods that examine genomes, exomes, and transcriptomes of tumors. From the resulting molecular data, they can identify novel genetic abnormalities, which may contribute to cancer pathogenesis. Revealing the underlying causes of cancer will improve how to detect, diagnosis, and treat cancer for patients in the United States and different parts of the world.

CGCI fosters research projects that focus on a variety of cancer types. The CGCI project members take the following phases or series of steps to complete the molecular characterization of cancers.


Phase 1: Project Initiation

  • develop protocols, standard operating procedures, and regulatory paperwork, such as patient consent and material transfer agreements
  • accrue tumor and matched normal tissue for the discovery cohort, verify tumor diagnosis by pathology review, and collect clinical data

Phase 2: Discovery

  • sequence the genomes and transcriptomes of the discovery cohort, analyze sequencing data, determine any changes associated with clinical variables
  • collect tumor and normal tissues for validation

Phase 3: Validation

  • determine the frequency of candidate alterations identified in discovery cohort by screening the validation cohort, confirm clinical outcome correlations, and identify biological pathways altered in tumor subtypes

Phase 4: Publication

  • publish findings in peer-reviewed journals, present at scientific meetings, release generated data to the research community ensuring patients’ privacy and confidentiality

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