Familial Adenomatous polyposis

Q. All are true about adenomatous polyposis syndrome except
A. 25% do not have family history
B. Attenuated FAP has less than 100 polyps and delayed onset (50-55 yrs)
C. More than 20 rectal polyps have to be operated as there is high risk of Carcinoma
D. Attenuated FAP don’t have extracolonic manifestations and carry APC mutation

Ans d 

The gene is expressed in 100% of patients with the mutation. Autosomal dominance results in expression in 50% of offspring.  So choice a is false

Attenuated FAP is a milder form of classic familial adenomatous polyposis (FAP) and is characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer (average age 50 to 55 years) (True)

 AFAP is caused by mutations in the APC gene and is inherited in an autosomal dominant manner. 



error: Content is protected !!