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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?
- 80%
- 50%
- 100% (correct)
- 20%
What is the characteristic inheritance pattern of FAP?
What is the characteristic inheritance pattern of FAP?
- Autosomal recessive
- X-linked recessive
- Autosomal dominant (correct)
- Y-linked
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?
- Less than 20%
- About 50% (correct)
- 100%
- Over 80%
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.
