Article
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
Oncogene - 15 Dec 2011
Rohlin A, Engwall Y, Fritzell K, Göransson K, Bergsten A, Einbeigi Z, Nilbert M, Karlsson P, Björk J, Nordling M
Abstract excerpt
Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to an imbalance in...
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