Genetic syndromes and genetic tests in colorectal cancer.
Our understanding of the biology of colon cancer has matured to the point that it is a useful general paradigm for understanding solid tumor development. Recent advances provide insight into the genetic alterations underlying the development of colon cancer. These insights provide unique opportunities for genetic testing in predisposed, asymptomatic patients that can direct screening efforts and their clinical management. This review examines several inherited colon cancer predispositions, well described clinically for a century, that are now amenable to genetic testing. Additional discussion focuses on colon cancer predisposition traits that occur with high frequency but low penetrance characteristics. Finally, genetic tests for tumor markers that potentially have prognostic or therapeutic implications are reviewed.
Calland
J F
JF
Department of Surgery, University of Virginia Health Systems, Charlottesville 22908-0708, USA.
Adams
R B
RB
DePrince
K
K
Foley
E F
EF
Powell
S M
SM
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics