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Study Description

Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) was one of five projects funded in 2010 as part of the NCI's Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative (http://epi.grants.cancer.gov/gameon/). GAME-ON's overall goal was to foster an intra-disciplinary and collaborative approach to the translation of promising research leads deriving from the initial wave of cancer GWAS. Specific goals included replication of previous GWAS findings and identification of new susceptibility loci through meta analyses of existing GWAS data and fine mapping of identified loci to better pinpoint causal variants; and identify germline variants that are associated with risk of multiple cancers. The other four funded GAME-ON projects were: the ColoRectal TransdisciplinaryStudy (CORECT), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), Follow-up of Ovarian Cancer Genetic Association and Interaction Study (FOCI), and Transdisciplinary Research in Cancer of the Lung (TRICL).

To identify additional cancer risk loci, improve the precision of fine-mapping, and facilitate cross-cancer analyses, the GAME-ON projects and other consortia formed the OncoArray network (http://epi.grants.cancer.gov/oncoarray/), which developed and genotyped a new custom genotyping array (the "OncoArray") in large numbers of cancer cases and controls (over 400,000 samples). The OncoArray is a custom array manufactured by Illumina. The array includes a backbone of approximately 260,000 SNPs that provide genome-wide coverage of most common variants, together with markers of interest for each of the five GAME-ON cancers identified through genome-wide association studies (GWAS), fine-mapping of known susceptibility regions, sequencing studies, and other approaches. The array also includes loci of interest identified through studies of other cancer types, and other loci of interest to multiple cancer types (including loci associated with cancer related phenotypes, drug metabolism and radiation response). Additionally, SNPs relating to quantitative phenotypes such as body mass index (BMI), height, and breast density that correlate with common cancer risks are also included.

The DRIVE data included under this dbGAP submission include OncoArray data from 60,015 breast cancer cases and controls genotyped at the Center for Inherited Disease Research (CIDR), University of Cambridge, National Cancer Institute, University of Copenhagen, University of Southern California and Mayo Clinic. Details on an additional approx. 80,000 breast cancer cases and controls genotyped at other centers can be found at http://bcac.ccge.medschl.cam.ac.uk/bcacdata/oncoarray/.

  • Study Weblinks:
  • Study Type:
    • Case-Control
    • Family
  • dbGaP estimated ancestry using GRAF-pop
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

This project includes OncoArray data from 60,231 breast cancer cases and controls that were genotyped at the Center for Inherited Disease Research. These subjects were drawn from seventeen studies, listed below, and were not excluded based on any of the following criteria: genotyping data call rate < 90%; genotyping data discordant from same sample's previous data (where available); duplicates within a study; male or gender unclear (XO, XXY); extreme heterozygosity in genotype data; phenotype and/or genotype data not consented for sharing via dbGAP.

This project includes data on subjects from the following studies: The Two Sister Study (2SISTER); Breast Oncology Galicia Network (BREOGAN); Copenhagen General Population Study (CGPS); Cancer Prevention Study-II Nutrition Cohort (CPSII); European Prospective Investigation Into Cancer and Nutrition (EPIC); Melbourne Collaborative Cohort Study (MCCS); Multiethnic Cohort (MEC); Nashville Breast Health Study (NBHS); Nurses Health Study (NHS); Nurses Health Study 2 (NHS2); NCI Polish Breast Cancer Study (PBCS); The Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial (PLCO); Study of Epidemiology and Risk factors in Cancer Heredity (SEARCH); The Sister Study (SISTER); Swedish Mammography Cohort (SMC); Women of African Ancestry Breast Cancer Study (WAABCS); and the Women's Health Initiative (WHI)

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Targeted Genotyping Illumina Infinium OncoArray-500k BeadChip N/A N/A
Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution