Trial Information

Outcomes in Education and Counseling for HNPCC Testing

OBJECTIVES:

- Identify family characteristics, personality traits, and religious and spiritual
beliefs that significantly affect individual decisions regarding mutation testing for
hereditary nonpolyposis colon cancer (HNPCC) (recruitment of new families with HNPCC
stopped as of 04-26-06, recruitment of persons within families already participating
continues).

- Determine the impact of negative vs positive mutation test results on family
relationships and psychological status.

- Assess expectations regarding testing and how they influence perceptions of risks and
responses to risk notification.

- Determine the impact of risk notification on the frequency of screening/prevention
activities.

- Formulate a standard diagnostic algorithm for determining microsatellite instability
based on the analysis of tumors with this extensive array of markers and correlate
specific replication error phenotypes with germline genotype.

OUTLINE: Participants complete a baseline assessment of knowledge, risk perception, and
personality traits followed by a structured pretest education session. Participants are then
offered the choice of whether or not to undergo genetic testing for mutations in hereditary
nonpolyposis colon cancer (HNPCC) genes. Participants who choose to undergo genetic testing
provide a blood sample for this purpose. Participants who undergo genetic testing receive
results and counseling (recruitment of new families with HNPCC stopped as of 04-26-06,
recruitment of persons within families already participating continues).

Available surveillance options are discussed for all participants. Psychological and
behavioral outcomes are reassessed at 6 and 12 months for both those choosing and not
choosing genetic testing.

Tumors (when available) are analyzed for mismatched repair deficiency on the basis of
microsatellite instability.

PROJECTED ACCRUAL: A total of 900 participants will be accrued for this study, with a
specific target of 200 individuals who have not experienced cancer within families
identified with hereditary nonpolyposis colon cancer (HNPCC) mutations (recruitment of new
families with HNPCC stopped as of 04-26-06, recruitment of persons within families already
participating continues).