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The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations

Abstract : Familial adenomatous polyposis (FAP) is a rare autosomal-inherited disease that highly predisposes to colorectal cancer, characterized by a diffuse duodenal and colorectal polyposis associated with various extradigestive tumors and linked to germline mutations within the APC gene. A French consortium of laboratories involved in APC mutation screening has progressively improved the description of the variation spectrum, inferred functional significance of nontruncating variations, and delineated phenotypic characteristics of the disease. The current version of the UMD-APC database is described here. The total number of variations has risen to 5,453 representing 1,473 distinct variations. The published records initially registered into the database were extended with 3,581 germline variations found through genetic testing performed by the eight licensed laboratories belonging to the French APC network. Sixty six of 149 variations of previously unknown significance have now been classified as (likely) causal or neutral. The database is available on the Internet (http://www.umd.be/APC/) and updated twice per year according to the consensus rules of the network. The UMD-APC database is thus expected to facilitate functional classification of rare synonymous, nonsynonymous, and intronic mutations and consequently improve genetic counseling and medical care in FAP families.
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https://hal-amu.archives-ouvertes.fr/hal-01681788
Contributor : Christophe Beroud <>
Submitted on : Thursday, January 11, 2018 - 5:49:14 PM
Last modification on : Tuesday, September 1, 2020 - 3:21:29 AM

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Philippe Grandval, Martine Blayau, Marie-Pierre Buisine, Florence Coulet, Christine Maugard, et al.. The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations. Human Mutation, Wiley, 2014, 35 (5), pp.532 - 536. ⟨10.1002/humu.22539⟩. ⟨hal-01681788⟩

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