Clinical management of hereditary colorectal cancer syndromes

Colorectal cancer is the second leading cause of cancer-related death in the United States. Although most colorectal cancers are sporadic, approximately 25% have a familial predisposition, and 5 to 7% are hereditary and occur in genetically distinct high-risk families. This review focuses on four hereditary colon cancer syndromes: familial adenomatosus polyposis, hereditary nonpolyposis colorectal cancer, juvenile polyposis syndrome, and Peutz-Jeghers syndrome.

The management of the inherited colorectal cancer syndromes has progressed substantially over the past years because of advancement of genetic understanding and testing options, which have led to the possibility of preclinical diagnosis and early surveillance and treatment. Genetic testing is based on identification of specific abnormalities and should be combined with counseling of affected families.

Recent advances have contributed to the understanding of the molecular basis of various types of colorectal cancer, and among these, the inherited colorectal cancer syndromes have attracted much attention. Expanding recognition of clinical characteristics, targeted surveillance strategies and new methods of treatment have led to improved clinical management of these syndromes.