Podcast
Questions and Answers
What is the lifetime risk of colorectal cancer in patients with FAP?
What is the lifetime risk of colorectal cancer in patients with FAP?
What is the characteristic inheritance pattern of FAP?
What is the characteristic inheritance pattern of FAP?
What percentage of cases of FAP arise from new mutations in the APC gene?
What percentage of cases of FAP arise from new mutations in the APC gene?
Which benign mesodermal tumor can be associated with FAP?
Which benign mesodermal tumor can be associated with FAP?
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What can be used to screen affected families for FAP if genetic testing is unavailable?
What can be used to screen affected families for FAP if genetic testing is unavailable?
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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.
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Description
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.
