Familial adenomatous polyposis: from bedside to bench and vice versa

Abstract

Familial adenomatous polyposis (FAP) is characterized by the presence of numerous adenomatous polyps in the colorectum, as well as an autosomal dominant mode of inheritance. This syndrome will inevitably lead to colorectal cancer when left untreated, and it is estimated that 1% of all colorectal cancer cases are due to it. Over the past 20 years molecular genetic studies on FAP patients have laid down the basis for the elucidation of the genetic phenomena that ultimately result in the development of colorectal cancer. Professor P. Meera Khan was one of the leading authorities in the world of molecular genetics of colorectal cancer in general and of FAP in particular. His scientific contributions from the pre-DNA era up to the recent implementation of molecular genetic research in daily clinical practice have helped revolutionize our approach and management of FAP patients and their relatives.

The molecular therapy of colorectal cancer

“…This has been initially shown in the case of familial adenomatous polyposis (FAP), a disease that is characterized by the development of high numbers of premalignant polyps in the colon of affected individuals at a relatively young age (Griffioen et al, 1999). Whereas the inheritable transmission of this disease has been known for several decades, the availability of molecular techniques enabled the identification of APC as the responsible gene for FAP during the 1990s (Griffioen et al, 1999). Thereafter, mutations of APC have also been detected in over 60% of sporadic colorectal cancers (Powell et al, 1992).…”