A clinician's guide to hereditary colon cancer.
Approximately 10% of patients diagnosed with colorectal cancer are at risk for a hereditary form of the disease. At-risk patients can be offered genetic counseling and testing to determine whether they carry a detectable mutation for such a syndrome. If so, this information provides the clinician with valuable data about the patient's risk for other cancers, and what further surveillance and risk reduction options should be incorporated into the management plan. Mutation identification within a family also makes it possible for other family members to learn if they are at risk for the same syndrome. There are many hereditary colorectal cancer syndromes, and the clinician must know what essential information should be elicited from a family history and which patients should be referred for genetic counseling and testing.
Matloff
Ellen T
ET
From the Yale Cancer Center, Yale University, New Haven, Connecticut 06510, USA. ellen.matloff@yale.edu
Brierley
Karina L
KL
Chimera
Christina M
CM
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics*