Article
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.
Journal of cancer research and clinical oncology - 1 Oct 2009
Andresen Per Arne, Heimdal Ketil, Aaberg Kristin, Eklo Katrine, Eklo Kristin, Ariansen Sarah, Silye Alexandra, Fausa Olav, Aabakken Lars, Aretz Stefan, Eide Tor J, Gedde-Dahl Tobias
Abstract excerpt
INTRODUCTION: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease caused by mutations in the adenomatous polyposis coli (APC) gene. Massive formation of colorectal adenomas, of which some will inevitably develop into adenocarcinomas, is the hallmark of the disease. Characterization of causative APC mutations allows presymptomatic diagnosis, close follow-up and prophylactic...
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