ZIH CP010205 10746 (ZIH) | |||
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Title | BRCA Challenge Tools | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Hoover, Robert | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $43,606 | Project Dates | null - null |
Fiscal Year | 2018 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) Cancer (100.0%) |
Breast (75.0%) Ovarian Cancer (25.0%) |
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Research Type | |||
Resources & Infrastructure Related to Biology Resources and Infrastructure Related to Etiology |
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Abstract | |||
The scientific and medical communities have a tremendous and urgent need for a comprehensive data store of variation in the BRCA1 and 2 genes. Variation in these genes can lead to genetic predisposition to breast, ovarian and other cancers, although there is a spectrum of the effect (from variants of no clinical significance to those with a high likelihood of developing cancer). Since not all BRCA variants are pathogenic, there is a significant scientific need to catalog the BRCA variants and their pathogenicity. There is enormous public interest in BRCA testing, both because of growing public interest in genetic testing and following Angelina Jolie?s public disclosure. However, there is currently no comprehensive data source on variation within the BRCA genes and as a result clinicians are frequently working with incomplete knowledge when determining a patient?s risk. The Global Alliance for Genomics and Health (GA4GH) has responded to this need by developing a BRCA Challenge, charged with the task of developing a comprehensive repository of BRCA variation. It is expected o have two tiers- one restricted for data amalgamation, annotation and curation, which will feed into a public site depicting the assessment of experts of the pathogenicity of the variant. This project is part of these efforts and will define the data infrastructure to unify, import, organize and share BRCA1/2 related data. Project Summary: Aim of the project is to create unified data definitions for characterizing BRCA1/2 variants. We will collect, unify and streamline existing data dictionaries used in the community. In collaboration with other GA4GH groups, we aim to extend GA4GH?s meta-, phenotype and clinical data definitions, in order to be extensible to other genes and diseases. Finally, plans are underway to work with data academic and commercial/diagnostic providers to present and discuss data formats as well as encourage sharing of BRCA1/2 data. |