Question
A portion of the large bowel was removed from a 34-year-old man with a familial disease that affects his gastrointestinal tract. The surgical specimen is shown in the image. This patient most likely carries a germline mutation in which of the following genes?
| A. |
APC
|
| B. |
C-myc
|
| C. |
DCC
|
| D. |
P53
|
Show Answer
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Correct Answer � A
Explanation
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|
Answer :A APC
The photograph shows numerous adenomas of the colon, consistent with familial adenomatous polyposis (FAP), also termed adenomatous polyposis coli (APC).
This autosomal dominant inherited disease accounts for about 1% of colorectal cancers.
It is characterized by the progressive development of innumerable adenomatous polyps of the colorectum, particularly in the rectosigmoid region.
Germline mutations in the APC gene, a putative tumor suppressor
gene, are responsible for FAP.
Carcinoma of the colon and rectum is inevitable in these patients, and the mean age of onset is 40 years.
The DCC gene (“deleted in colon cancer”) is a putative tumor suppressor gene that is often missing in colorectal cancers.
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