Which variant is associated with familial adenomatous polyposis (FAP)?

Familial adenomatous polyposis (FAP) is primarily associated with mutations in the APC gene, which is located on chromosome 5. This condition is characterized by the development of numerous colorectal polyps, which carry a high risk of progressing to colorectal cancer if not managed appropriately. The mode of inheritance for FAP is autosomal dominant, meaning that only one copy of the mutated gene is sufficient to increase the risk of developing the disease.

The APC gene is a crucial tumor suppressor gene responsible for regulating cell growth and apoptosis. When a mutation occurs, it disrupts the normal function of the APC protein, leading to uncontrolled cell proliferation and the formation of polyps in the colon and rectum. Hence, identifying and understanding the specific mutations in the APC gene are vital for early diagnosis and management of FAP.

Other options mention unrelated genetic conditions or inheritance patterns, which do not have a direct association with FAP. Focusing on the autosomal dominant nature of the mutations in the APC gene is essential for recognizing the hereditary aspect of this disease.