Exome Resequencing Identifies Potential Tumor‐Suppressor Genes that Predispose to Colorectal Cancer. Issue 7 (20th May 2013)

• Record Type: Journal Article
• Authors: Smith, Christopher G.; Naven, Marc; Harris, Rebecca; Colley, James; West, Hannah; Li, Ning; Liu, Yuan; Adams, Richard; Maughan, Timothy S.; Nichols, Laura; Kaplan, Richard; Wagner, Michael J.; McLeod, Howard L.; Cheadle, Jeremy P.
• Is Part Of: Human mutation. Volume 34:Issue 7(2013:Jul.)
• Page Start: 1026
• Page End: 1034
• Publication Date: 2013-05-20
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22333
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22333-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We exomeresequenced 50 sporadic patients with advanced CRC. To identify predisposition alleles, we sought rare/novel germline truncating mutations in 1138 genes considered likely to play a role in colorectal tumorigenesis. Thirty‐two such mutations were identified, including an insertion in <italic>APC</italic>, thereby validating our approach. We sought somatic mutations in the corresponding genes in the CRCs of the patients harbouring the germline lesions and found biallelic inactivation of <italic>FANCM, LAMB4, PTCHD3, LAMC3</italic> and <italic>TREX2</italic>, implicating their potential role in CRC‐predisposition. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg224gz468" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>