True about familial adenomatous polyposis is?
**Core Concept:** Familial adenomatous polyposis (FAP) is a rare autosomal dominant genetic disorder characterized by the development of numerous adenomatous polyps in the colon and rectum, leading to an increased risk of colorectal cancer. Mutations in the adenomatous polyposis coli (APC) gene are responsible for this condition.
**Why the Correct Answer is Right:** Familial adenomatous polyposis is a genetic disorder caused by mutations in the adenomatous polyposis coli (APC) gene. APC gene mutations lead to the loss of function of the APC protein, resulting in uncontrolled cell growth and formation of multiple adenomatous polyps in the gastrointestinal tract, primarily in the colon and rectum. These polyps can progress to cancer over time, making FAP patients at high risk for colorectal cancer.
**Why Each Wrong Option is Incorrect:**
A. False: While FAP is associated with colorectal polyps, the correct answer option focuses on the genetic aspect of the disease.
B. False: This option mentions adenomas, which are different from adenomatous polyps. Adenomatous polyps are the specific type of polyps present in FAP patients.
C. False: Though FAP is associated with an increased risk of colorectal cancer, this option does not address the genetic aspect of the disease.
D. False: This option talks about serrated polyps, which are different from adenomatous polyps and are not present in FAP patients.
**Clinical Pearl:** Familial adenomatous polyposis is an example of autosomal dominant inheritance, where one mutated allele is sufficient to cause the disease in an individual with two alleles. Early diagnosis and surveillance are crucial for preventing colorectal cancer in FAP patients.
**Correct Answer:** Familial adenomatous polyposis (APC gene mutation)