Review article: genetic testing and counselling for hereditary colorectal cancer.
Colorectal cancer is the second leading cause of cancer death, after lung cancer, in the USA. The great majority (80%) of patients with colorectal cancer have sporadic disease with no evidence of having inherited the disorder. In the remaining 20%, a potentially definable genetic component exists. With the discovery of gene mutations related to hereditary colorectal cancer, risk assessment based on genetic test results is now feasible. The following review focuses on the two well-described colorectal cancer genetic syndromes-familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, the process of genetic counselling, currently available genetic tests, and indications for their use.
Trimbath
J D
JD
Department of Medicine, The John Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Giardiello
F M
FM
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D005817:Genetic Counseling / Q000379:methods*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009154:Mutation