Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis

Germline hypermethylation of the APC pro

Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families

✍ Jordi Romero-Giménez; Higinio Dopeso; Ignacio Blanco; Angel Guerra-Moreno; Sara 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 French ⚖ 226 KB 👁 2 views

## Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome predisposing to colorectal cancer and affects 1 in 5–10,000 births. Inheritance of a mutant allele of the adenomatous polyposis coli (__APC__) gene is the cause of ∼80% of FAP and 20–30% of an attenuated form of FAP