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Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) - OncoArray Genotypes

UID: 10750

Author(s): Hunter, David J., Kraft, Peter, Lindström, Sara, Easton, Douglas F.

Description
Study Description from dbGaP:"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.

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, 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."

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 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."
Subject of Study
Subject(s)
OncoTree Cancer Type(s)
Breast
Access via dbGaP

RAW and Plain Text files from targeted genotyping
Accession #: phs001265.v1.p1

Access Restrictions
Application Required
Access Instructions
"Full access to this dataset in dbGaP requires authorization through an Authorized Access Portal which can be requested for either 'data download' or 'view only'. Individual level data download requires a project request. With dbGaP DataBrowser approval, users may view the compilation of individual-level data of general research use. Upon approval, data can be downloaded. To view the data available with Authorized Access, click the link 'list of components' in the Authorized Access section. Upon approval, data can be downloaded.

Publicly available data such as data dictionaries, variable summaries, documents and truncated analysis are available the public download site FTP link."
Associated Publications
Data Type
Equipment Used
Illumina Infinium OncoArray 500k
Dataset Format(s)
Plain Text, RAW
Data Tool(s)
Targeted Genotyping
Data Catalog Record Updated
2021-07-22