Article
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.
Familial cancer - 1 Mar 2015
Quadri Marialuisa, Vetro Annalisa, Gismondi Viviana, Marabelli Monica, Bertario Lucio, Sala Paola, Varesco Liliana, Zuffardi Orsetta, Ranzani Guglielmina N
Abstract excerpt
Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome leading to the development of multiple intestinal polyps and colorectal cancer. FAP is associated with germline defects of APC tumor suppressor gene; although truncating mutations account for the majority of cases, large APC...
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