Article
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Familial cancer - 1 Apr 2016
Spier Isabel, Kerick Martin, Drichel Dmitriy, Horpaopan Sukanya, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Adam Ronja, Zhao Bixiao, Becker Tim, Lifton Richard P, Holinski-Feder Elke, Perner Sven, Thiele Holger, Nöthen Markus M, Hoffmann Per, Timmermann Bernd, Schweiger Michal R, Aretz Stefan
Abstract excerpt
In up to 30% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, and POLE or POLD1, causing Polymerase-Proofreading-associated polyposis can be identified, although a hereditary etiology is likely. To uncover new causative genes, exome sequencing was performed using DNA from leukocytes...
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