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Outcomes & Impact of The Cancer Genome Atlas

The Cancer Genome Atlas Legacy: Pushing the Boundaries of Research

Dr. Francis Collins and other key figures reflect on the creation of The Cancer Genome Atlas and how the program has made major impacts in cancer research and beyond.

The Cancer Genome Atlas (TCGA) has helped establish the importance of cancer genomics, transformed our understanding of cancer, and even begun to change how the disease is treated in the clinic. The impact goes even further, reaching health and science technologies, computational biology, and other research fields.

After 12 years, contributions from over 11,000 patients, and incredible effort from thousands of researchers, TCGA has produced a rich data set of immeasurable value. This data remains available to the public as a trusted reference that will be mined for many years.

TCGA Outcomes and Impact

Below are just some examples of how TCGA has made an impact, either directly through the program and the program’s researchers, or indirectly through independent researchers who have creatively utilized the data.

Deepened our understanding of cancer through molecular characterizations

  • In addition to canonical substitutions and indels,1 DNA alterations can occur as various other types, such as fusions,2,3 copy number alterations,4,5 and other complex structural variations.6
  • Researchers have detected aberrations in DNA sequence,1 gene expression,7,8,9 epigenetics (e.g., miRNAs,10,11,12 ncRNAs,13,14 and methylation15), and protein expression and structure,3,16,17 each implicating different functional consequences.
  • While thousands of alterations have been identified, they can be better understood in the context of functional pathways18,19 or assembled together as distinct mutation signatures.20
  • Cancers of different tissues can share the same alterations and be biologically more similar to each other than to other tumors of the same tissue of origin.21
  • Tumors are diverse populations of cells composed of cancer clones22 and immune cells23 of varying heterogeneity.

Established a rich genomics data resource for the broad research community

  • Scientists studying metagenomics,24 immunology,25 and other diseases26 and topics continue to mine and learn from TCGA data.

Bolstered the computational biology field

  • The vast amount of data and many data types produced by TCGA have spurred tremendous growth in the computational biology field.
  • Researchers developing tools for a wide range of purposes, such as calling somatic and germline mutations,27 predicting genes of prognostic significance,28 constructing regulatory networks,29 batch analysis and correction,30 and automated analysis of cancer images31 routinely make use of TCGA data.

Helped advance health and science technologies

  • The pursuit of TCGA's mission helped lead to substantial improvements in data quality and reductions in cost for DNA and RNA sequencing.
  • Reverse phase protein arrays, formalin-fixed paraffin-embedded sample analyte extraction, and other molecular technologies also saw substantial growth and development.

Changed the way cancer patients are treated in the clinic

  • More accurate stratification and prognosis of disease can now be provided through molecular and clinical data, particularly in the case of low grade gliomas32,33 and gastric cancer.34
  • Many molecular subtypes of cancer may be treated by available drugs35,36 or have potential targets to investigate.37

 

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