Adenomatous Polyposis with no genetic alteration identified
In around 20% of patients who develop adenomatous polyps we will not be able to identify a genetic alteration causing these polyps. In some cases, only a handful of polyps grow and it is only the presenting individual that needs screening. In other cases, the patient grows hundreds of polyps and exhibits signs exactly like FAP. When a genetic cause cannot be identified, the diagnosis is made clinically and screening and surgery is carried out according to the patient’s individual diagnosis. If a genetic cause cannot be found, this does not affect the patient’s clinical care but it does mean that if appropriate, family members will be invited for endoscopic screening and will not be able to have a genetic blood test to see if they have inherited the condition.
