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Database Commons - UMD-BRCA1/BRCA2

UMD-BRCA1/BRCA2

Citations: 23

z-index 0.00

Short name UMD-BRCA1/BRCA2
Full name Universal mutation database-BRCA1/BRCA2
Description BRCA Share is a novel gene datashare initiative that provides scientists and commercial laboratory organizations around the world with open access to BRCA1 and BRCA2 genetic data.
URL http://www.umd.be/BRCA1/; http://www.umd.be/BRCA2/
Year founded 2011
Last update & version 4/21/2015    v1.0
Availability Free to all users
University/Institution hosted Institute Curie Hospital Rene Huguenin
Address 35 Rue Dailly, 92210 Saint-Cloud,France
City Montpellier
Province/State
Country/Region France
Contact name Sandrine Caputo
Contact email sandrine.caputo@curie.net
Data type(s)
Major organism(s)
Keyword(s)
  • breast cancer
  • ovarian cancer
Publication(s)
  • Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. [PMID: 22144684]

    Sandrine Caputo, Louisa Benboudjema, Olga Sinilnikova, Etienne Rouleau, Christophe Béroud, Rosette Lidereau, null null
    Nucleic acids research 2012:40(Database issue)
    23 Citations (Google Scholar as of 2016-01-23)

    Abstract: BRCA1 and BRCA2 are the two main genes responsible for predisposition to breast and ovarian cancers, as a result of protein-inactivating monoallelic mutations. It remains to be established whether many of the variants identified in these two genes, so-called unclassified/unknown variants (UVs), contribute to the disease phenotype or are simply neutral variants (or polymorphisms). Given the clinical importance of establishing their status, a nationwide effort to annotate these UVs was launched by laboratories belonging to the French GGC consortium (Groupe Génétique et Cancer), leading to the creation of the UMD-BRCA1/BRCA2 databases (http://www.umd.be/BRCA1/ and http://www.umd.be/BRCA2/). These databases have been endorsed by the French National Cancer Institute (INCa) and are designed to collect all variants detected in France, whether causal, neutral or UV. They differ from other BRCA databases in that they contain co-occurrence data for all variants. Using these data, the GGC French consortium has been able to classify certain UVs also contained in other databases. In this article, we report some novel UVs not contained in the BIC database and explore their impact in cancer predisposition based on a structural approach.

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Tags

Disease DNA Protein
Homo sapiens
breast cancer ovarian cancer

Record metadata

  • Created on: 2015-06-20
  • Curated by:
    • Hongyan Yin [2016-03-31]
    • Mengwei Li [2016-02-15]
    • Hongyan Yin [2015-11-22]
    • Hongyan Yin [2015-06-26]
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