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Database Commons - LOVD

LOVD

Citations: 33

z-index 0.00

Short name LOVD
Full name Leiden Open Variation Database
Description LOVD holds missense substitutions from the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2.
URL http://brca.iarc.fr/LOVD/home.php
Year founded 2004
Last update & version 2015-01-23    v2.0
Availability Free to all users
University/Institution hosted International Agency for Research on Cancer
Address Lyon, France
City Lyon
Province/State
Country/Region France
Contact name Sean V Tavtigian
Contact email sean.tavtigian@hci.utah.edu
Data type(s)
Major organism(s)
Keyword(s)
  • BRCA1
  • BRCA2
  • missense substitution
Publication(s)
  • Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. [PMID: 21990165]

    Maxime P Vallée, Tiana C Francy, Megan K Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E Goldgar, Fergus J Couch, Sean V Tavtigian
    Human mutation 2012:33(1)
    33 Citations (Google Scholar as of 2016-04-17)

    Abstract: Unclassified sequence variants (UVs) arising from clinical mutation screening of cancer susceptibility genes present a frustrating issue to clinical genetics services and the patients that they serve. We created an open-access database holding missense substitutions from the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2. The main inclusion criterion is that each variant should have been assessed in a published work that used the Bayesian integrated evaluation of unclassified BRCA gene variants. Transfer of data on these substitutions from the original publications to our database afforded an opportunity to analyze the missense substitutions under a single model and to remove inconsistencies that arose during the evolution of the integrated evaluation over the last decade. This analysis also afforded the opportunity to reclassify these missense substitutions according to the recently published IARC 5-Class system. From an initial set of 248 missense substitutions, 31 were set aside due to nonnegligible probability to interfere with splicing. Of the remaining substitutions, 28 fell into one of the two pathogenic classes (IARC Class 4 or 5), 174 fell into one of the two nonpathogenic classes (IARC Class 1 or 2), and 15 remain in IARC Class 3, "Uncertain." The database is available at http://brca.iarc.fr/LOVD. © 2011 Wiley Periodicals, Inc.

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Tags

Disease DNA
Homo sapiens
BRCA1 BRCA2 missense substitution

Record metadata

  • Created on: 2015-06-30
  • Curated by:
    • Chunlei Yu [2016-04-17]
    • Lina Ma [2016-04-12]
    • Chunlei Yu [2016-04-01]
    • Mengwei Li [2015-12-29]
    • Li Yang [2015-06-30]
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