The cancer genome atlas pan-cancer analysis project
Open accessAbstract
Current clinical practice is organized according to tissue or organ of origin of tumors. Now, The Cancer Genome Atlas (TCGA) Research Network has started to identify genomic and other molecular commonalities among a dozen different types of cancer. Emerging similarities and contrasts will form the basis for targeted therapies of the future and for repurposing existing therapies by molecular rather than histological similarities of the diseases. The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile.
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The large number of applications based on omics can be ascribed to The Cancer Genome Atlas Program (TCGA), a publicly available collection of genomes developed mainly for cancer-related research.
“the large number based on omics can be ascribed to The Cancer Genome Atlas Program (TCGA), a publicly available collection of genomes that was developed mainly for cancer-related research42.”
From A scoping review of robustness concepts for machine learning in healthcare (2025) · cites this paper as [42]
The Pan-Cancer Project section describes TCGA’s cancer-focused datasets across genomic, epigenomic, transcriptional and proteomic platforms. From Many Tumours to the Individual Patient says the datasets are publicly available and a resource for cancer analysis. It does not establish that TCGA accounts for the large number of omics-based applications. (LLM, conf=0.85)
Experimental — accuracy not yet measuredThe genetics and genomics communities have created large reference datasets, including the human genome project, HapMap, TCGA, ENCODE, GTEx, HPA, HCA, and population-scale biobank efforts.
“The genetics and genomics communities have created large reference datasets, such as the human genome project,23 HapMap,122 the Cancer Genome Atlas (TCGA),123 ENCODE,124 the Genotype-Tissue Expression (GTEx) project,125 the Human Protein Atlas (HPA),64,126 the Human Cell Atlas (HCA),24 and a growing number of deeply phenotyped, population-scale biobank efforts.127”
From How to build the virtual cell with artificial intelligence: Priorities and opportunities (2024) · cites this paper as [123]
CTransPath is a lightweight (30 million parameters) Swin Transformer trained at a resolution of 1.0 micron per pixel on over 32,000 WSIs from TCGA and PAIP using a semantically guided contrastive learning algorithm.
“The former is a lightweight (30 million parameters) Swin Transformer15 trained at a resolution of 1.0 micron per pixel (mpp) on over 32,000 WSIs from TCGA16 and PAIP19 using a semantically guided contrastive learning algorithm20.”
From Generating dermatopathology reports from gigapixel whole slide images with HistoGPT (2025) · cites this paper as [16]
Generative vision language models such as Med-PaLM M, LLaVA-Med, or PathChat can output text, but only at the patch level for small image regions up to 1024 × 1024 pixels.
“Generative vision language models such as Med-PaLM M14, LLaVA-Med15, or PathChat16 can output text, but only at the patch level for small image regions up to 1024 × 1024 pixels.”
From Generating dermatopathology reports from gigapixel whole slide images with HistoGPT (2025) · cites this paper as [16]
The Pan-Cancer Project and Limitations of Pan-Cancer Analysis sections discuss cancer-genomics data and integration challenges, not generative vision-language models. Searches for Med-PaLM M, LLaVA-Med, PathChat, and the 1024 × 1024-pixel patch limit found no passage addressing the claim. (LLM, conf=0.78)
Experimental — accuracy not yet measuredIn patients with HCC, high PROX1 expression is associated with increased survival.
“in patients with HCC, high PROX1 expression or chromosomal amplifications including PROX1 were both associated with increased survival25–32”
From Active repression of cell fate plasticity by PROX1 safeguards hepatocyte identity and prevents liver tumorigenesis (2025) · cites this paper as [30]
The Pan-Cancer Project section discusses predicting patient outcomes across tumour types, while Limitations of Pan-Cancer Analysis mentions hepatocellular carcinoma only in relation to viral causes (page numbers unavailable). Searches for PROX1, HCC survival and chromosomal amplification found no passage linking PROX1 expression to survival in HCC patients. (LLM, conf=0.77)
Experimental — accuracy not yet measured
In patients with HCC, chromosomal amplifications including PROX1 are associated with increased survival.
“in patients with HCC, high PROX1 expression or chromosomal amplifications including PROX1 were both associated with increased survival25–32”
From Active repression of cell fate plasticity by PROX1 safeguards hepatocyte identity and prevents liver tumorigenesis (2025) · cites this paper as [30]
The Limitations of Pan-Cancer Analysis section mentions hepatocellular carcinoma only in connection with viral causes. Searches for PROX1, HCC copy-number amplification, and survival found no passage linking amplifications including PROX1 to increased survival in HCC patients. (LLM, conf=0.76)
Experimental — accuracy not yet measuredThe study uses lung cancer images from The Cancer Genome Atlas to construct a simulated environment of several institutions to validate the approach.
“Finally, we use lung cancer images from The Cancer Genome Atlas (TCGA) dataset 5 to construct a simulated environment of several institutions to validate our approach.”
From Federated Learning and Differential Privacy for Medical Image Analysis (2021) · cites this paper as [5]
117 de novo mutations occurred at 76 recurrent somatic mutations observed in at least three TCGA patients.
“We observe 117 DNMs at 76 recurrent somatic mutations observed in at least three patients in The Cancer Genome Atlas (TCGA)22.”
From Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020) · cites this paper as [22]
Analysis of genomic alterations in glioblastoma according to TCGA identified the q13-15 region of chromosome 12 as one of the regions most often rearranged in the disease.
“Our analysis of genomic alterations in glioblastoma according to data in the Cancer Genome Atlas (TCGA) identified the q13–15 region of chromosome 12 as one of the regions that most often rearranged in the disease (Fig. 1A and B)5, 6, 7.”
Combining prostate cancer RNA-seq and SNP data from TCGA identified risk-modulating non-coding RNA.
“One group combined prostate cancer RNA-seq and SNP data to identify risk-modulating non-coding RNA, demonstrating the application of multi-omics TCGA data integration146,147.”
From The technological landscape and applications of single-cell multi-omics (2023) · cites this paper as [147]
TCGA is a cancer-specific multi-omics resource containing over 20,000 primary cancer and matched normal samples from 33 cancer types, with genomic, epigenomic, transcriptomic and proteomic data.
“The Cancer Genome Atlas (TCGA) is a cancer-specific multi-omics data resource characterizing over 20,000 primary cancer and corresponding normal samples from 33 cancer types, representing data from genomic, epigenomic, transcriptomic and proteomic modalities.”
From The technological landscape and applications of single-cell multi-omics (2023) · cites this paper as [147]
TCGA is a large-scale landmark cancer genomics database providing whole-slide images for normal controls and cancers for histology and microscopy research.
“The Cancer Genome Atlas (TCGA) [116] 14 is a large-scale landmark cancer genomics database.”
From Federated learning for medical image analysis: A survey (2024) · cites this paper as [116]
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- Authors
- The Cancer Genome Atlas Research Network, Weinstein, J. N., Collisson, E. A., Mills, G. B., Shaw, K. R. M., Ozenberger, B. A., Ellrott, K., Shmulevich, I., Sander, C., & Stuart, J. M.
- Affiliations
- The University of Texas MD Anderson Cancer Center (US)
- University of California, San Francisco (US)
- National Institutes of Health (US)
- University of California, Santa Cruz (US)
- Memorial Sloan Kettering Cancer Center (US)
- Corresponding author
- Stuart, Joshua M
- ORCID
- Venue
- Nature Genetics
- Published
- 2013-09-26
- Volume
- 45
- Issue
- 10
- Pages
- 1113-1120
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3919969
- OpenAlex
- W2158485828
- Cited by
- 9,092
- References
- 44
- Citations by year
- 2026: 884 · 2025: 1024 · 2024: 1102 · 2023: 948 · 2022: 908 · 2021: 949 · 2020: 842 · 2019: 675 · 2018: 538 · 2017: 442 · 2016: 360 · 2015: 260 · 2014: 137 · 2013: 15
- FWCI
- 90.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature Genetics (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eSpace (Curtin University) (submittedVersion)
- Chalmers Publication Library (Chalmers University of Technology) (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by-nc-sa)
- Chalmers Research (Chalmers University of Technology) (submittedVersion)
- Scholarworks@UNIST (Ulsan National Institute of Science and Technology) (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion, cc-by-nc-sa)
- Funders
- National Human Genome Research Institute (R01HG005690)
- National Cancer Institute (P50CA098258, U24CA143882, U24CA143840, U24CA143858, K08CA137153, R01CA180778, U01CA168394, U24CA143883, U24CA143835, P50CA083639, P01CA101937, P30CA008748, P30CA016672)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
- Keywords
- pan-cancer analysis, TCGA, genetic abnormalities, targeted cancer therapy, drug repurposing, tumor lineage, epigenetic modifications, RNA expression profiling, protein expression profiling
- MeSH terms
- Humans, Neoplasms, Genome, Gene Expression Profiling
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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