5 Questions
What is the lifetime risk of colorectal cancer in patients with FAP?
100%
What is the characteristic inheritance pattern of FAP?
Autosomal dominant
What percentage of cases of FAP arise from new mutations in the APC gene?
About 50%
Which benign mesodermal tumor can be associated with FAP?
Desmoid tumor
What can be used to screen affected families for FAP if genetic testing is unavailable?
Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
Study Notes
Familial Adenomatous Polyposis (FAP)
- The lifetime risk of colorectal cancer in patients with FAP is almost 100% if left untreated.
Inheritance Pattern
- FAP has an autosomal dominant inheritance pattern.
APC Gene Mutations
- Approximately 20-30% of cases of FAP arise from new mutations in the APC gene.
Associated Benign Tumor
- Desmoid tumors, a type of benign mesodermal tumor, can be associated with FAP.
Screening for FAP
- Flexible sigmoidoscopy can be used to screen affected families for FAP if genetic testing is unavailable.
Learn about the clinical definition, genetic inheritance, and characteristics of Familial Adenomatous Polyposis (FAP), a condition characterized by the presence of colorectal adenomas and extraintestinal manifestations.
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