Analysis of BRCA1 Variants in Double‐Strand Break Repair by Homologous Recombination and Single‐Strand Annealing. Issue 3 (12th December 2012)

• Record Type: Journal Article
• Authors: Towler, William I.; Zhang, Jie; Ransburgh, Derek J. R.; Toland, Amanda E.; Ishioka, Chikashi; Chiba, Natsuko; Parvin, Jeffrey D.
• Is Part Of: Human mutation. Volume 34:Issue 3(2013:Mar.)
• Page Start: 439
• Page End: 445
• Publication Date: 2012-12-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22251
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22251-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Missense substitutions of uncertain clinical significance in the <italic>BRCA1</italic> gene are a vexing problem in genetic counseling for women who have a family history of breast or ovarian cancer. In this study, we evaluated whether functional assays for DNA repair can augment the genetic information. We found that the effects of BRCA1 missense substitutions on protein function in homologous recombination repair of DNA double strand breaks were predictive of disease association. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1tt8dhrn" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>