Inherited colorectal cancer syndromes

Abstract

Colorectal cancer is one of the major causes of cancer deaths in both men and women. It is estimated that approximately 5% to 10% of patients with colorectal cancer have an inherited germline mutation that predisposes them to cancer. Clinically, hereditary colorectal cancer syndromes can be divided into those associated with colonic polyposis (familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MYH-associated polyposis) and those not associated with colonic polyposis (hereditary nonpolyposis colon cancer). Treatment options for these patients include multiple aggressive screening regimens, chemopreventive medications, and prophylactic surgery. Selection of the appropriate management approach is best made using information obtained from the patient's clinical examination, the family medical history, and genetic evaluation. Compliance is improved when patients completely understand their disease and participate fully in the formulation of the treatment plan. Although not proved, it seems reasonable that this approach may prevent the poor outcomes so frequently associated with inherited cancer syndromes.

Keywords: Familial adenomatous polyposis; MYH-associated polyposis; attenuated familial polyposis; hereditary nonpolyposis colon cancer.