GENIE

American Association for Cancer Research (AACR) - PROJECT GENIE

The American Association for Cancer Research (AACR) strives to prevent and cure cancer through research, education, communication, collaboration, funding, and advocacy. Through its programs and services, the AACR fosters research in cancer and related biomedical science; accelerates the dissemination of new research findings among scientists and others dedicated to the conquest of cancer; promotes science education and training; and advances the understanding of cancer etiology, prevention, diagnosis, and treatment throughout the world.

Program Description

The AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE) is an international pan-cancer registry of real-world data assembled through data sharing between 19 leading international cancer centers with the goal of improving clinical decision-making. The registry leverages ongoing clinical sequencing efforts (CLIA/ISO-certified) at participating cancer centers by pooling their data to create a novel, open-access registry to serve as an evidence base for the entire cancer community. Genomic and baseline clinical data from more than 40,000 tumors has been made available in the GDC, following the efforts of AACR’s strategic and technical partners, Sage Bionetworks and Memorial Sloan Kettering Cancer Center. The consortium and its activities are driven by openness, transparency, and inclusion to ensure that the project output remains accessible to the global cancer research community and ultimately benefits patients.

Started in 2017, the project was developed to serve as a prototype for aggregating, harmonizing, and sharing clinical-grade, next-generation sequencing data obtained during routine medical practice.

Data Overview

The data can be found on the GDC Data Portal. To request access to protected GENIE data, please apply to dbGaP for access to the GENIE Study (study accession phs001337).

Available are biospecimen, baseline clinical, and genomic data from 44,756 cancer patients corresponding to AACR Project GENIE version 5.0. The data come from eight original GENIE contributing sites:

  • Dana-Farber Cancer Institute (DFCI)
  • Institut Gustave Roussy (GRCC)
  • University of Texas MD Anderson Cancer Center (MDA)
  • Memorial Sloan Kettering Cancer Center (MSK)
  • Johns Hopkins Sidney Kimmel Comprehensive Cancer Center (JHU)
  • Netherlands Cancer Center (NKI), The Netherlands
  • Princess Margaret Cancer Centre, University Health Network (UHN)
  • Vanderbilt-Ingram Cancer Center (VICC)

The genomic data was lifted over from the GENIE hg19 genome reference to the GDC reference genome standard, hg38.

Cancer Types

Disease Type Primary Site
Acinar Cell Neoplasms Other and unspecified major salivary glands, Pancreas, Unknown
Adenomas and Adenocarcinomas Adrenal gland, Anus and anal canal, Bladder, Breast, Bronchus and lung, Cervix uteri, Colon, Esophagus, Kidney, Liver and intrahepatic bile ducts, Nasal cavity and middle ear, Other and ill-defined digestive organs, Other and ill-defined sites, Other and unspecified major salivary glands, Other and unspecified parts of biliary tract, Other and unspecified urinary organs, Other endocrine glands and related structures, Ovary, Pancreas, Prostate gland, Rectum, Skin, Small intestine, Stomach, Thymus, Thyroid gland, Unknown, Uterus, NOS, Vagina
Adnexal and Skin Appendage Neoplasms Skin
Basal Cell Neoplasms Skin
Blood Vessel Tumors Breast, Connective, subcutaneous and other soft tissues, Liver and intrahepatic bile ducts, Spinal cord, cranial nerves, and other parts of central nervous system
Chronic Myeloproliferative Disorders Hematopoietic and reticuloendothelial systems
Complex Epithelial Neoplasms Breast, Bronchus and lung, Cervix uteri, Other and ill-defined sites, Pancreas, Stomach, Uterus, NOS
Complex Mixed and Stromal Neoplasms Breast, Bronchus and lung, Connective, subcutaneous and other soft tissues, Corpus uteri, Kidney, Liver and intrahepatic bile ducts, Other and ill-defined digestive organs, Other and unspecified major salivary glands, Ovary, Pancreas, Uterus, NOS
Cystic, Mucinous and Serous Neoplasms Bladder, Breast, Cervix uteri, Colon, Ovary, Pancreas, Stomach, Uterus, NOS
Ductal and Lobular Neoplasms Breast, Colon, Kidney, Other and unspecified major salivary glands, Skin, Thyroid gland
Epithelial Neoplasms, NOS Bladder, Breast, Bronchus and lung, Cervix uteri, Corpus uteri, Esophagus, Kidney, Nasal cavity and middle ear, Nasopharynx, Other and ill-defined sites, Other and unspecified major salivary glands, Other and unspecified parts of biliary tract, Ovary, Pancreas, Small intestine, Spinal cord, cranial nerves, and other parts of central nervous system, Stomach, Thymus, Thyroid gland, Unknown, Uterus, NOS, Vagina
Fibroepithelial Neoplasms Breast, Ovary
Fibromatous Neoplasms Bronchus and lung, Connective, subcutaneous and other soft tissues, Skin, Spinal cord, cranial nerves, and other parts of central nervous system
Germ Cell Neoplasms Brain, Other and unspecified female genital organs, Ovary, Spinal cord, cranial nerves, and other parts of central nervous system, Testis
Giant Cell Tumors Bones, joints and articular cartilage of other and unspecified sites, Connective, subcutaneous and other soft tissues
Gliomas Other endocrine glands and related structures, Spinal cord, cranial nerves, and other parts of central nervous system
Granular Cell Tumors and Alveolar Soft Part Sarcomas Connective, subcutaneous and other soft tissues, Spinal cord, cranial nerves, and other parts of central nervous system
Hodgkin Lymphoma Hematopoietic and reticuloendothelial systems
Immunoproliferative Diseases Hematopoietic and reticuloendothelial systems
Leukemias, NOS Hematopoietic and reticuloendothelial systems
Lipomatous Neoplasms Connective, subcutaneous and other soft tissues, Kidney
Lymphatic Vessel Tumors Bronchus and lung
Lymphoid Leukemias Hematopoietic and reticuloendothelial systems
Malignant Lymphomas, NOS or Diffuse Brain, Hematopoietic and reticuloendothelial systems, Testis
Mast Cell Tumors Hematopoietic and reticuloendothelial systems
Mature B-Cell Lymphomas Hematopoietic and reticuloendothelial systems
Mature T- and NK-Cell Lymphomas Hematopoietic and reticuloendothelial systems
Meningiomas Meninges
Mesonephromas Cervix uteri, Uterus, NOS
Mesothelial Neoplasms Heart, mediastinum, and pleura, Retroperitoneum and peritoneum, Testis
Miscellaneous Bone Tumors Bones, joints and articular cartilage of other and unspecified sites
Miscellaneous Tumors Bones, joints and articular cartilage of other and unspecified sites, Other endocrine glands and related structures, Spinal cord, cranial nerves, and other parts of central nervous system
Mucoepidermoid Neoplasms Bronchus and lung, Other and unspecified major salivary glands
Myelodysplastic Syndromes Hematopoietic and reticuloendothelial systems
Myeloid Leukemias Hematopoietic and reticuloendothelial systems
Myomatous Neoplasms Connective, subcutaneous and other soft tissues, Stomach, Uterus, NOS
Myxomatous Neoplasms Connective, subcutaneous and other soft tissues
Neoplasms of Histiocytes and Accessory Lymphoid Cells Connective, subcutaneous and other soft tissues, Hematopoietic and reticuloendothelial systems
Neoplasms, NOS Bladder, Bones, joints and articular cartilage of other and unspecified sites, Brain, Breast, Bronchus and lung, Cervix uteri, Connective, subcutaneous and other soft tissues, Gallbladder, Hematopoietic and reticuloendothelial systems, Kidney, Other and ill-defined digestive organs, Other and ill-defined sites, Other and unspecified female genital organs, Other and unspecified urinary organs, Ovary, Pancreas, Prostate gland, Retroperitoneum and peritoneum, Skin, Small intestine, Spinal cord, cranial nerves, and other parts of central nervous system, Stomach, Testis, Thyroid gland, Unknown, Uterus, NOS
Nerve Sheath Tumors Peripheral nerves and autonomic nervous system
Neuroepitheliomatous Neoplasms Brain, Eye and adnexa, Spinal cord, cranial nerves, and other parts of central nervous system
Nevi and Melanomas Anus and anal canal, Esophagus, Eye and adnexa, Other and ill-defined sites, Other and unspecified female genital organs, Other and unspecified urinary organs, Skin, Spinal cord, cranial nerves, and other parts of central nervous system, Unknown
Odontogenic Tumors Bones, joints and articular cartilage of other and unspecified sites
Osseous and Chondromatous Neoplasms Bones, joints and articular cartilage of other and unspecified sites
Other Leukemias Hematopoietic and reticuloendothelial systems
Paragangliomas and Glomus Tumors Adrenal gland, Connective, subcutaneous and other soft tissues
Plasma Cell Tumors Hematopoietic and reticuloendothelial systems
Precursor Cell Lymphoblastic Lymphoma Hematopoietic and reticuloendothelial systems
Soft Tissue Tumors and Sarcomas, NOS Breast, Bronchus and lung, Connective, subcutaneous and other soft tissues, Uterus, NOS
Specialized Gonadal Neoplasms Ovary, Testis
Squamous Cell Neoplasms Anus and anal canal, Bladder, Breast, Bronchus and lung, Cervix uteri, Esophagus, Hypopharynx, Kidney, Larynx, Oropharynx, Other and ill-defined sites, Other and ill-defined sites in lip, oral cavity and pharynx, Other and unspecified urinary organs, Penis, Prostate gland, Skin, Unknown, Vagina
Synovial-like Neoplasms Connective, subcutaneous and other soft tissues
Thymic Epithelial Neoplasms Thymus
Transitional Cell Papillomas and Carcinomas Bladder, Nasal cavity and middle ear, Other and unspecified urinary organs
Trophoblastic neoplasms Spinal cord, cranial nerves, and other parts of central nervous system, Testis, Uterus, NOS

Data Types and Access Levels

Data Type Data Format # of Cases and Files Estimated File Size Data Access Level
Clinical and Biospecimen TSV,
JSON
44756 Cases N/A Open
Masked Annotated Somatic Mutations MAF 44755 Cases
44755 Files
154.62 MB Controlled
Gene Level Copy Number Scores TXT 32528 Cases
32528 Files
749.31 MB Controlled
Transcript Fusion TSV 3132 Cases
3132 Files
970.18 KB Controlled