BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
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 va...
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doaj-3d040669de2049168c109d5c746eac9a2021-04-21T13:52:09ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042018-12-011412e100775210.1371/journal.pgen.1007752BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.Melissa S ClineRachel G LiaoMichael T ParsonsBenedict PatenFaisal AlquaddoomiAntonis AntoniouSamantha BaxterLarry BrodyRobert Cook-DeeganAmy CoffinFergus J CouchBrian CraftRobert CurrieChloe C DlottLena DolmanJohan T den DunnenStephanie O M DykeSusan M DomchekDouglas EastonZachary FischmannWilliam D FoulkesJudy GarberDavid GoldgarMary J GoldmanPeter GoodhandSteven HarrisonDavid HausslerKazuto KatoBartha KnoppersCharles MarkelloRobert NussbaumKenneth OffitSharon E PlonJem RashbassHeidi L RehmMark RobsonWendy S RubinsteinDominique Stoppa-LyonnetSean TavtigianAdrian ThorogoodCan ZhangMarc ZimmermannBRCA Challenge AuthorsJohn BurnStephen ChanockGunnar RätschAmanda B SpurdleThe 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.https://doi.org/10.1371/journal.pgen.1007752 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Melissa S Cline Rachel G Liao Michael T Parsons Benedict Paten Faisal Alquaddoomi Antonis Antoniou Samantha Baxter Larry Brody Robert Cook-Deegan Amy Coffin Fergus J Couch Brian Craft Robert Currie Chloe C Dlott Lena Dolman Johan T den Dunnen Stephanie O M Dyke Susan M Domchek Douglas Easton Zachary Fischmann William D Foulkes Judy Garber David Goldgar Mary J Goldman Peter Goodhand Steven Harrison David Haussler Kazuto Kato Bartha Knoppers Charles Markello Robert Nussbaum Kenneth Offit Sharon E Plon Jem Rashbass Heidi L Rehm Mark Robson Wendy S Rubinstein Dominique Stoppa-Lyonnet Sean Tavtigian Adrian Thorogood Can Zhang Marc Zimmermann BRCA Challenge Authors John Burn Stephen Chanock Gunnar Rätsch Amanda B Spurdle |
spellingShingle |
Melissa S Cline Rachel G Liao Michael T Parsons Benedict Paten Faisal Alquaddoomi Antonis Antoniou Samantha Baxter Larry Brody Robert Cook-Deegan Amy Coffin Fergus J Couch Brian Craft Robert Currie Chloe C Dlott Lena Dolman Johan T den Dunnen Stephanie O M Dyke Susan M Domchek Douglas Easton Zachary Fischmann William D Foulkes Judy Garber David Goldgar Mary J Goldman Peter Goodhand Steven Harrison David Haussler Kazuto Kato Bartha Knoppers Charles Markello Robert Nussbaum Kenneth Offit Sharon E Plon Jem Rashbass Heidi L Rehm Mark Robson Wendy S Rubinstein Dominique Stoppa-Lyonnet Sean Tavtigian Adrian Thorogood Can Zhang Marc Zimmermann BRCA Challenge Authors John Burn Stephen Chanock Gunnar Rätsch Amanda B Spurdle BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genetics |
author_facet |
Melissa S Cline Rachel G Liao Michael T Parsons Benedict Paten Faisal Alquaddoomi Antonis Antoniou Samantha Baxter Larry Brody Robert Cook-Deegan Amy Coffin Fergus J Couch Brian Craft Robert Currie Chloe C Dlott Lena Dolman Johan T den Dunnen Stephanie O M Dyke Susan M Domchek Douglas Easton Zachary Fischmann William D Foulkes Judy Garber David Goldgar Mary J Goldman Peter Goodhand Steven Harrison David Haussler Kazuto Kato Bartha Knoppers Charles Markello Robert Nussbaum Kenneth Offit Sharon E Plon Jem Rashbass Heidi L Rehm Mark Robson Wendy S Rubinstein Dominique Stoppa-Lyonnet Sean Tavtigian Adrian Thorogood Can Zhang Marc Zimmermann BRCA Challenge Authors John Burn Stephen Chanock Gunnar Rätsch Amanda B Spurdle |
author_sort |
Melissa S Cline |
title |
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. |
title_short |
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. |
title_full |
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. |
title_fullStr |
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. |
title_full_unstemmed |
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. |
title_sort |
brca challenge: brca exchange as a global resource for variants in brca1 and brca2. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS Genetics |
issn |
1553-7390 1553-7404 |
publishDate |
2018-12-01 |
description |
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. |
url |
https://doi.org/10.1371/journal.pgen.1007752 |
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