The Cancer Genome Characterization Initiative (CGCI) supports cutting-edge genomics research on 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 lead to better cancer detection, diagnosis, and treatment for patients in the US and different parts of the world.
Visit the CGCI Research page for an introduction to the research methods used by CGCI investigators.
CGCI fosters research projects that focus on a variety of cancer types. The following generalized timeline describes the steps CGCI project members take to successfully complete the molecular characterization of cancers. Some of the details, such as the types of experimental approaches applied, will vary between projects. Visit individual project pages for more information.
Phase I: Project Initiation
- Develop protocols, SOPs, and all other important project documents
- Complete regulatory paperwork, such as forms related to patient consent and material transfer agreements
- Accrue tumor and matched normal tissue for the discovery cohort
- Verify tumor diagnosis by pathology review
- Collect clinical data
Phase II: Discovery
- Sequence the genomes and transcriptomes of the discovery cohort; methods vary between projects
- Analyze sequencing data to identify candidate alterations in tumors, such as chromosome deletions, amplifications, alternatively spliced transcripts, gene fusions, and point mutations
- Determine if there are changes associated with clinical variables
- Collect tumor and normal tissues for validation
Phase III: Validation
- Determine the frequency of candidate alterations identified in discovery cohort by screening the validation cohort; methods vary between projects
- Confirm clinical outcome correlations
- Identify biological pathways altered in tumor subtypes
Phase IV: Publication
- Publish findings in peer-reviewed journals
- Present at scientific meetings, congresses, and symposia
- Release generated data to the research community for further utilization through protected websites to ensure patients’ privacy and confidentiality
Following the successful completion of the medulloblastoma and non-Hodgkin lymphoma projects, CGCI expanded its efforts to molecularly characterize HIV-associated cancers and Burkitt lymphoma. Both projects are in the discovery phase. Project teams are accruing and sequencing high-quality tumor samples and generating data.
Researchers examined genetic alterations in medulloblastoma (MB), a brain cancer that occurs primarily in children, and B-cell non-Hodgkin lymphoma (NHL), a group of cancers of the white blood cells. These projects revealed many previously unidentified alterations that are potentially important in cancer onset and/or progression.