FAP is an autosomal, dominantly inherited disease that affects about 1 in 7000 individuals. Patients with FAP typically develop hundreds to thousands of colorectal tumors (called adenomas or adenomatous polyps) during their second and third decades of life.

Although these benign tumors are not individually life-threatening, their large numbers virtually guarantee that some will progress to invasive lesions (called cancers or carcinomas). Additionally, FAP patients often develop extracolonic manifestations, including retinal lesions, osteomas, desmoids of the skin, and brain tumors.

 Following the path demarcated by germline alterations in FAP patients and somatic alterations in sporadic colorectal tumors, it became possible to identify the adenomatous polyposis coli (APC) gene and to prove that it caused FAP by demonstrating cosegregation of mutant APC alleles in affected kindreds .

Thanks and Regards,
Michelle
Managing Editor
Colorectal Cancer: Open Access
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