Article
Heterozygous APC germline mutations impart predisposition to colorectal cancer.
Scientific reports - 4 Mar 2021
Preisler Livia, Habib Aline, Shapira Guy, Kuznitsov-Yanovsky Liron, Mayshar Yoav, Carmel-Gross Ilana, Malcov Mira, Azem Foad, Shomron Noam, Kariv Revital, Hershkovitz Dov, Ben-Yosef Dalit
Abstract excerpt
Familial adenomatous polyposis (FAP) is an inherited syndrome caused by a heterozygous adenomatous polyposis coli (APC) germline mutation, associated with a profound lifetime risk for colorectal cancer. While it is well accepted that tumorigenic transformation is initiated following acquisition of a second mutation and loss of function of the APC gene, the role of heterozygous APC mutation in this process is yet...
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