BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
| Autor: | Cline, M.S., Liao, R.G., Parsons, M.T., Paten, B., Alquaddoomi, F., Antoniou, A., Baxter, S., Brody, L., Cook-Deegan, R., Coffin, A., Couch, F.J., Craft, B., Currie, R., Dlott, C.C., Dolman, L., Dunnen, J.T. den, Dyke, S.O.M., Domchek, S.M., Easton, D., Fischmann, Z., Foulkes, W.D., Garber, J., Goldgar, D., Goldman, M.J., Goodhand, P., Harrison, S., Haussler, D., Kato, K., Knoppers, B., Markello, C., Nussbaum, R., Offit, K., Plon, S.E., Rashbass, J., Rehm, H.L., Robson, M., Rubinstein, W.S., Stoppa-Lyonnet, D., Tavtigian, S., Thorogood, A., Zhang, C., Zimmermann, M., Burn, J., Chanock, S., Ratsch, G., Spurdle, A.B., Andreoletti, G., Baker, D., Brenner, S., Brush, M., Caputo, S., Castera, L., Cunningham, F., Hoya, M. de la, Diekhans, M., Dolinsky, J., Dwight, S., Eccles, D., Feng, B., Fiume, M., Flicek, P., Gaudet, P., Garcia, E.G., Haendel, M., Haeussler, M., Hahnen, E., Houdayer, C., Hunt, S., James, P., Lebo, M., Lee, J., Lerner-Ellis, J., Lin, M., Lincoln, S., Malheiro, A., Mesenkamp, A., Monteiro, A., Natzijl-Visser, E., Ngeow, J., North, K., Parkinson, H., Paschall, J., Patrinos, G., Phimister, B., Radice, P., Rainville, I., Rasmussen, M., Riley, G., Rouleau, E., Schmutzler, R., Shefchek, K., Sofia, H., Southey, M., Stuart, J., Thomas, J., Toland, A., Truty, R., Turn-Bull, C., Vaur, D., Vreeswijk, M.P.G., Walker, L., Walsh, M., Wappenschmidt, B., Weitzel, J., Wright, M., Zalunin, V., Zaranek, A., Zerbino, D., Zhou, A., Zhou, J., Zook, J., BRCA Challenge Authors |
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| Přispěvatelé: | Eng, Charis, Liao, Rachel G [0000-0002-7830-1976], Parsons, Michael T [0000-0003-3242-8477], Alquaddoomi, Faisal [0000-0003-4297-8747], Baxter, Samantha [0000-0003-4616-9234], Coffin, Amy [0000-0003-2723-8222], Currie, Robert [0000-0003-1828-1827], Dlott, Chloe C [0000-0002-7268-7230], Dolman, Lena [0000-0002-3938-588X], Fischmann, Zachary [0000-0002-7687-0972], Foulkes, William D [0000-0001-7427-4651], Goldman, Mary J [0000-0002-9808-6388], Goodhand, Peter [0000-0002-2624-2820], Harrison, Steven [0000-0002-9614-9111], Haussler, David [0000-0003-1533-4575], Markello, Charles [0000-0002-3653-7155], Plon, Sharon E [0000-0002-9626-0936], Rehm, Heidi L [0000-0002-6025-0015], Rubinstein, Wendy S [0000-0002-8790-9959], Tavtigian, Sean [0000-0002-7543-8221], Thorogood, Adrian [0000-0001-5078-8164], Chanock, Stephen [0000-0002-2324-3393], Rätsch, Gunnar [0000-0001-5486-8532], Spurdle, Amanda B [0000-0003-1337-7897], Apollo - University of Cambridge Repository |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male Cancer Research Research Facilities endocrine system diseases Epidemiology Genes BRCA2 Genes BRCA1 Social Sciences Penetrance QH426-470 Patient advocacy Database and Informatics Methods 0302 clinical medicine Resource (project management) Sociology Gene Frequency Consortia Risk Factors Databases Genetic Medicine and Health Sciences Aetiology skin and connective tissue diseases Genetics (clinical) Cancer Ovarian Neoplasms education.field_of_study Cancer Risk Factors Genomics Genomic Databases 3. Good health Viewpoints Phenotype Oncology 030220 oncology & carcinogenesis Female Research Laboratories Population Genetic Causes of Cancer MEDLINE Information Dissemination Breast Neoplasms Patient Advocacy Biology Research and Analysis Methods Human Genomics 03 medical and health sciences Databases Genetic Breast Cancer Genetics Humans Genetic Predisposition to Disease education Molecular Biology Ecology Evolution Behavior and Systematics Alleles Human Genome Biology and Life Sciences Computational Biology Genetic Variation Genome Analysis Genomic Libraries BRCA1 Data science BRCA2 Data sharing Health Care 030104 developmental biology Biological Databases Good Health and Well Being Genes Genetic Loci Medical Risk Factors BRCA Challenge Authors Mutation Leiden Open Variation Database 2.6 Resources and infrastructure (aetiology) Government Laboratories Developmental Biology |
| Zdroj: | PLoS genetics, vol 14, iss 12 PLoS Genetics, 14(12) PLoS Genetics, Vol 14, Iss 12, p e1007752 (2018) PLoS Genetics PLoS Genetics, 14 (12) |
| Popis: | The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2. Initially, reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org. The purpose of the BRCA Exchange is to provide the community with a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. More than 20,000 variants have been aggregated, three times the number found in the next-largest public database at the project’s outset, of which approximately 7,250 have expert classifications. The data set is based on shared information from existing clinical databases—Breast Cancer Information Core (BIC), ClinVar, and the Leiden Open Variation Database (LOVD)—as well as population databases, all linked to a single point of access. The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 variation. Ongoing work includes direct contact with national centers with access to BRCA1 and BRCA2 diagnostic data to encourage data sharing, development of methods suitable for extraction of genetic variation at the level of individual laboratory reports, and engagement with participant communities to enable a more comprehensive understanding of the clinical significance of genetic variation in BRCA1 and BRCA2. Author summary The goal of this study and paper has been to develop an international resource to generate an informed and current understanding of the impact of genetic variation on cancer risk across the cancer predisposition genes, BRCA1 and BRCA2. Reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org, to provide a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. |
| Databáze: | OpenAIRE |
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