Key Practice Points

• The most important component of the management of HNPCC is identifying the affected individuals and their families.

• Patients identified as being at high risk for HNPCC should be treated with a multidisciplinary approach.

• Ample time must be allowed for genetic counseling prior to genetic testing.

• During genetic counseling, the potential implications of positive and negative test results must be discussed in detail.

• During genetic counseling, it must be emphasized to patients that genetic testing is not simple and can have major implications throughout a patient's lifetime.

• A negative mutation-testing result does not mean that the individual tested does not carry a mutation unless an affected individual in the kindred carries a mutation.

• The treatment of choice for patients with HNPCC is total abdominal colectomy with an ileorectal anastomosis, but management should be individualized.

chemoprevention studies should be considered. These patients and patients who are at risk but are members of families in which no mutation has been found after genetic testing should be monitored as if they were affected. Prophylactic colectomy has been proposed as an option in certain cases in gene carriers (Burke et al, 1997).

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