PMID- 30586411
OWN - NLM
STAT- MEDLINE
DCOM- 20190304
LR  - 20190304
IS  - 1553-7404 (Electronic)
IS  - 1553-7390 (Linking)
VI  - 14
IP  - 12
DP  - 2018 Dec
TI  - BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and
      BRCA2.
PG  - e1007752
LID - 10.1371/journal.pgen.1007752 [doi]
AB  - 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.
FAU - Cline, Melissa S
AU  - Cline MS
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
FAU - Liao, Rachel G
AU  - Liao RG
AUID- ORCID: 0000-0002-7830-1976
AD  - Broad Institute, Cambridge, Massachusetts, United States of America.
FAU - Parsons, Michael T
AU  - Parsons MT
AUID- ORCID: 0000-0003-3242-8477
AD  - Genetics and Computational Biology Division, QIMR Berghofer Medical Research
      Institute, Brisbane, Queensland, Australia.
FAU - Paten, Benedict
AU  - Paten B
AD  - Department of Biomolecular Engineering, University of California Santa Cruz,
      Santa Cruz, California, United States of America.
FAU - Alquaddoomi, Faisal
AU  - Alquaddoomi F
AUID- ORCID: 0000-0003-4297-8747
AD  - Department of Computer Science, Biomedical Informatics Group Universitatsstrasse,
      Zurich, Switzerland.
AD  - Biomedical Informatics, University Hospital Zurich, Zurich, Switzerland.
AD  - Biocybernetics Laboratory, Computer Science Department, University of California,
      Los Angeles, California, United States of America.
FAU - Antoniou, Antonis
AU  - Antoniou A
AD  - Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary
      Care, University of Cambridge, Cambridge, United Kingdom.
FAU - Baxter, Samantha
AU  - Baxter S
AUID- ORCID: 0000-0003-4616-9234
AD  - Department of Biomolecular Engineering, University of California Santa Cruz,
      Santa Cruz, California, United States of America.
FAU - Brody, Larry
AU  - Brody L
AD  - Medical Genomics and Metabolic Genetics Branch, National Human Genome Research
      Institute, Bethesda, Maryland, United States of America.
FAU - Cook-Deegan, Robert
AU  - Cook-Deegan R
AD  - School for the Future of Innovation in Society, and Consortium for Science,
      Policy & Outcomes, Arizona State University, Tempe, Arizona, United States of
      America.
FAU - Coffin, Amy
AU  - Coffin A
AUID- ORCID: 0000-0003-2723-8222
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
FAU - Couch, Fergus J
AU  - Couch FJ
AD  - Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United
      States of America.
FAU - Craft, Brian
AU  - Craft B
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
FAU - Currie, Robert
AU  - Currie R
AUID- ORCID: 0000-0003-1828-1827
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
FAU - Dlott, Chloe C
AU  - Dlott CC
AUID- ORCID: 0000-0002-7268-7230
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
FAU - Dolman, Lena
AU  - Dolman L
AUID- ORCID: 0000-0002-3938-588X
AD  - The Global Alliance for Genomics and Health, Toronto, Ontario, Canada.
FAU - den Dunnen, Johan T
AU  - den Dunnen JT
AD  - Department of Human Genetics, Leiden University Medical Center, Leiden, The
      Netherlands.
FAU - Dyke, Stephanie O M
AU  - Dyke SOM
AD  - Centre of Genomics and Policy, Faculty of Medicine, McGill University, Montreal, 
      Quebec, Canada.
FAU - Domchek, Susan M
AU  - Domchek SM
AD  - Perelman School of Medicine at the University of Pennsylvania, Philadelphia,
      Pennsylvania, United States of America.
FAU - Easton, Douglas
AU  - Easton D
AD  - Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary
      Care, University of Cambridge, Cambridge, United Kingdom.
FAU - Fischmann, Zachary
AU  - Fischmann Z
AUID- ORCID: 0000-0002-7687-0972
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
FAU - Foulkes, William D
AU  - Foulkes WD
AUID- ORCID: 0000-0001-7427-4651
AD  - Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill
      University, Montreal, Quebec, Canada.
FAU - Garber, Judy
AU  - Garber J
AD  - Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts,
      United States of America.
FAU - Goldgar, David
AU  - Goldgar D
AD  - Huntsman Cancer Institute and Department of Dermatology, University of Utah, Salt
      Lake City, Utah, United States of America.
FAU - Goldman, Mary J
AU  - Goldman MJ
AUID- ORCID: 0000-0002-9808-6388
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
FAU - Goodhand, Peter
AU  - Goodhand P
AUID- ORCID: 0000-0002-2624-2820
AD  - The Global Alliance for Genomics and Health, Toronto, Ontario, Canada.
FAU - Harrison, Steven
AU  - Harrison S
AUID- ORCID: 0000-0002-9614-9111
AD  - Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School,
      Boston, Massachusetts, United States of America.
FAU - Haussler, David
AU  - Haussler D
AUID- ORCID: 0000-0003-1533-4575
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
AD  - Department of Biomolecular Engineering, University of California Santa Cruz,
      Santa Cruz, California, United States of America.
FAU - Kato, Kazuto
AU  - Kato K
AD  - Graduate School of Medicine, Osaka University, Osaka, Japan.
FAU - Knoppers, Bartha
AU  - Knoppers B
AD  - Centre of Genomics and Policy, Faculty of Medicine, Human Genetics, McGill
      University, Montreal, Quebec, Canada.
FAU - Markello, Charles
AU  - Markello C
AUID- ORCID: 0000-0002-3653-7155
AD  - University of California Santa Cruz Genomics Institute, University of California,
      Santa Cruz, California, United States of America.
AD  - Department of Biomolecular Engineering, University of California Santa Cruz,
      Santa Cruz, California, United States of America.
AD  - Center for Biomolecular Science & Engineering, University of California, Santa
      Cruz, California, United States of America.
FAU - Nussbaum, Robert
AU  - Nussbaum R
AD  - Invitae, San Francisco, California, United States of America.
FAU - Offit, Kenneth
AU  - Offit K
AD  - Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering
      Cancer Center, New York, New York, United States of America.
FAU - Plon, Sharon E
AU  - Plon SE
AUID- ORCID: 0000-0002-9626-0936
AD  - Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United
      States of America.
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas, United States of America.
FAU - Rashbass, Jem
AU  - Rashbass J
AD  - National Disease Registration, National Cancer Registration and Analysis Service,
      Public Health England, London, United Kingdom.
FAU - Rehm, Heidi L
AU  - Rehm HL
AUID- ORCID: 0000-0002-6025-0015
AD  - Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine,
      Cambridge, Massachusetts, United States of America.
AD  - Department of Pathology, Brigham & Women's Hospital and Harvard Medical School,
      Boston, Massachusetts, United States of America.
FAU - Robson, Mark
AU  - Robson M
AD  - Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering
      Cancer Center, New York, New York, United States of America.
FAU - Rubinstein, Wendy S
AU  - Rubinstein WS
AUID- ORCID: 0000-0002-8790-9959
AD  - CancerLinQ at American Society of Clinical Oncology (ASCO), Alexandria, Virginia,
      United States of America.
FAU - Stoppa-Lyonnet, Dominique
AU  - Stoppa-Lyonnet D
AD  - Institut Curie, Cancer Genetic Clinic, Paris, France.
FAU - Tavtigian, Sean
AU  - Tavtigian S
AUID- ORCID: 0000-0002-7543-8221
AD  - Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School,
      Boston, Massachusetts, United States of America.
AD  - Department of Oncological Sciences, The University of Utah, Salt Lake City, Utah,
      United States of America.
FAU - Thorogood, Adrian
AU  - Thorogood A
AUID- ORCID: 0000-0001-5078-8164
AD  - The Global Alliance for Genomics and Health, Toronto, Ontario, Canada.
AD  - Centre of Genomics and Policy, McGill University, Montreal, Canada.
FAU - Zhang, Can
AU  - Zhang C
AD  - Department of Computer Science, University of California, Santa Cruz, Santa Cruz,
      California, United States of America.
FAU - Zimmermann, Marc
AU  - Zimmermann M
AD  - Department of Computer Science, Biomedical Informatics Group Universitatsstrasse,
      Zurich, Switzerland.
AD  - Biomedical Informatics, University Hospital Zurich, Zurich, Switzerland.
CN  - BRCA Challenge Authors
FAU - Burn, John
AU  - Burn J
AD  - Institute of Genetic Medicine, Newcastle University, Centre for Life, Newcastle
      upon Tyne, United Kingdom.
FAU - Chanock, Stephen
AU  - Chanock S
AUID- ORCID: 0000-0002-2324-3393
AD  - Division of Cancer Epidemiology and Genetics, National Cancer Institute,
      Rockville, Maryland, United States of America.
FAU - Ratsch, Gunnar
AU  - Ratsch G
AUID- ORCID: 0000-0001-5486-8532
AD  - Department of Computer Science, Biomedical Informatics Group Universitatsstrasse,
      Zurich, Switzerland.
AD  - Biomedical Informatics, University Hospital Zurich, Zurich, Switzerland.
AD  - Computational Biology Program, Memorial Sloan Kettering Cancer Center, New York, 
      New York, United States of America.
AD  - Swiss Institute for Bioinformatics, Lausanne, Switzerland.
FAU - Spurdle, Amanda B
AU  - Spurdle AB
AUID- ORCID: 0000-0003-1337-7897
AD  - Genetics and Computational Biology Division, QIMR Berghofer Medical Research
      Institute, Herston, Brisbane, Australia.
LA  - eng
GR  - #141210/Canadian Institutes of Health Research/International
GR  - R01 HG008918/HG/NHGRI NIH HHS/United States
GR  - U54 HG007990/HG/NHGRI NIH HHS/United States
GR  - U41 HG006834/HG/NHGRI NIH HHS/United States
GR  - P30 CA008748/CA/NCI NIH HHS/United States
GR  - U24 CA210999/CA/NCI NIH HHS/United States
GR  - U01 HG008676/HG/NHGRI NIH HHS/United States
GR  - Canadian Institutes of Health Research/International
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20181226
PL  - United States
TA  - PLoS Genet
JT  - PLoS genetics
JID - 101239074
SB  - IM
MH  - Alleles
MH  - Breast Neoplasms/genetics
MH  - *Databases, Genetic/ethics
MH  - Female
MH  - Gene Frequency
MH  - *Genes, BRCA1
MH  - *Genes, BRCA2
MH  - Genetic Predisposition to Disease
MH  - *Genetic Variation
MH  - Humans
MH  - Information Dissemination/ethics/legislation & jurisprudence
MH  - Male
MH  - Mutation
MH  - Ovarian Neoplasms/genetics
MH  - Penetrance
MH  - Phenotype
MH  - Risk Factors
PMC - PMC6324924
COIS- I have read the journal's policy and have the following conflicts: SEP is a
      member of the Scientific Advisory Board of Baylor Genetics, and is on the
      editorial board of PLOS Genetics. MR receives advisory fees, travel fees, and
      honoraria from AstraZeneca. The other authors have no competing interests to
      declare.
EDAT- 2018/12/27 06:00
MHDA- 2019/03/05 06:00
CRDT- 2018/12/27 06:00
PHST- 2019/01/08 00:00 [revised]
PHST- 2018/12/27 06:00 [pubmed]
PHST- 2019/03/05 06:00 [medline]
PHST- 2018/12/27 06:00 [entrez]
AID - 10.1371/journal.pgen.1007752 [doi]
AID - PGENETICS-D-18-01167 [pii]
PST - epublish
SO  - PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752.
      eCollection 2018 Dec.