What genetic condition is associated with an increased risk of colorectal cancer?

Study for the NBME Form 14 Step 2 Test with comprehensive questions and detailed explanations. Enhance your test-taking skills and ace your exam with confidence!

Familial adenomatous polyposis is a genetic condition characterized by the development of numerous polyps in the colon and rectum, which significantly increases the risk of colorectal cancer. Individuals with this syndrome typically develop hundreds to thousands of adenomatous polyps starting in their teenage years or early adulthood. If left untreated, there is a nearly 100% risk of colorectal cancer by the age of 40.

The underlying genetic cause of familial adenomatous polyposis is a mutation in the APC gene, which plays a crucial role in cell growth regulation. Due to the high number of polyps, regular screening and preventive surgeries, such as colectomy, are often necessary for individuals with this condition to manage their risk of developing cancer.

Other genetic conditions listed, such as hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, and Matcher's syndrome, are associated with cancer but have different primary cancer risks. For instance, hereditary breast and ovarian cancer syndrome is primarily linked to breast and ovarian cancers due to mutations in the BRCA1 and BRCA2 genes. Li-Fraumeni syndrome is associated with a variety of cancer types, including sarcomas and breast cancer, but not specifically with colorectal cancer. Matcher's syndrome, which is

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