Familial Adenomatous PolyposisFamilial adenomatous polyposis (FAP) is a disease characterised by adenomatous polyps of the colon and rectum. It is considered to be a pre-malignant disease with one or more polyps progressing to colorectal cancer in untreated patients with a median age at diagnosis of 40 years. Carcinoma may arise at any age, anywhere from late childhood through to the seventh decade. The presenting features are usually those of:
Malignancy, such as weight loss and inanition
Bowel obstruction
Bloody diarrhoea
Mutations in the APC tumour suppressor gene are an initiating event for both familial and sporadic colorectal tumourigenesis. Owing to a germline mutation of APC usually inherited from a parent but which can occur spontaneously in about one-third of cases, individuals with FAP already possess only one functional copy of APC per cell. Recently the use of specific NSAID ́s (Non Steroidal Anti-Inflammatory Drugs) has been approved for the therapy of FAP patients. Currently, however, the treatment of choice for FAP patients is still regular screening for the initial development of polyps, followed by preventative surgery by removing the colon, thus indicating the high medical need for more effective new medications. Useful links : Pipeline - SavicolTM
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