The UMD–APC Database, a Model of Nation‐Wide Knowledge Base: Update with Data from 3, 581 Variations. Issue 5 (7th April 2014)

• Record Type: Journal Article
• Authors: Grandval, Philippe; Blayau, Martine; Buisine, Marie‐Pierre; Coulet, Florence; Maugard, Christine; Pinson, Stéphane; Remenieras, Audrey; Tinat, Julie; Uhrhammer, Nancy; Béroud, Christophe; Olschwang, Sylviane
• Is Part Of: Human mutation. Volume 35:Issue 5(2014:May)
• Page Start: 532
• Page End: 536
• Publication Date: 2014-04-07
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22539
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22539-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Cancer prone individuals benefit from highly effective risk management protocols. Unclear or misinformed laboratory reports have major implications, the presence or absence of a pathogenic mutation being instrumental to decisions made about clinical recommendations. The scientific and medical genetics community devotes substantial efforts in the VUS classification process, as exemplified here with the UMD‐APC database. The UMD‐cancer genes databases consist in evolving public tools for geneticists and facilitate diagnosis and counseling of patients and families affected with cancer predispositions. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg5ndpg9j3" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>