Question
In familial adenomatous polyposis, which of the following all are true ?
1. Presence of $>100$ colorectal polyps
2. Positive family history
3. Autosomal Recessive inheritance
4. Genetic mutation on Chromo- some 5
Select the correct answer using the code given below :
The correct answer is
1, 2 and 4
Understanding Familial Adenomatous Polyposis (FAP) Characteristics
Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by the development of numerous precancerous polyps in the colon and rectum. Let's evaluate the given statements about FAP:
Statement Analysis for FAP
-
Statement 1: Presence of >100 colorectal polyps
This is a defining characteristic of FAP. Individuals typically develop hundreds to thousands of adenomatous polyps throughout their colon and rectum, usually by their teenage years. The condition necessitates treatment to prevent progression to cancer. -
Statement 2: Positive family history
FAP is an inherited disorder. While spontaneous mutations can occur, a significant proportion of cases involve a known family history of the condition, reflecting its autosomal dominant inheritance pattern. -
Statement 3: Autosomal Recessive inheritance
This statement is incorrect. FAP follows an autosomal dominant inheritance pattern. This means only one copy of the altered gene is needed for a person to be affected. If a parent has FAP, each child has a 50% chance of inheriting the condition. -
Statement 4: Genetic mutation on Chromosome 5
FAP is most commonly caused by mutations in the APC (Adenomatous Polyposis Coli) gene, which is located on the long arm of chromosome 5 (specifically at locus 5q21-q22).
Identifying the Correct Combination
Based on the analysis, statements 1, 2, and 4 accurately describe key features of Familial Adenomatous Polyposis.
- Statement 1 is TRUE (Presence of >100 colorectal polyps).
- Statement 2 is TRUE (Positive family history is common due to inheritance).
- Statement 3 is FALSE (Inheritance is autosomal dominant, not recessive).
- Statement 4 is TRUE (Mutation typically involves the APC gene on Chromosome 5).
Therefore, the combination including statements 1, 2, and 4 is correct.
Conclusion
The correct option includes the true statements: 1, 2, and 4.
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1. It presents as acute large bowel mechanical obstruction
2. Marked caecal dilatation is a common feature on X-ray abdo- men
3. Caecal perforation is a well recog- nized complication of this condi- tion
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Select the correct answer using the code given below : - Which of the following statements regarding Carcinoid tumour are correct?
1. Terminal ileum is the most common site for these tumours in the gastrointestinal tract
2. These tumors arise from Kulchitsky cells situated at the base of intestinal crypts
3. 5-Hydroxytryptamine is the most common vasoactive peptide produced by these tumors
4. Serum chromogranin A is a useful marker for disease recurrence
Select the correct answer using the code given below :
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