This study will explore the best way to teach and counsel people who may have a genetic mutation (change in a gene) responsible for a hereditary form of colon cancer. It will examine how a person's beliefs, values and family experiences affect their decision to be tested or not for changes in the two most common HNPCC (hereditary non-polyposis colon cancer) genes. HNPCC changes result in uncorrected DNA "replication errors." These are mistakes that occur when DNA-the genetic material in the cell nucleus-copies itself during cell division. These mistakes are common and normally are corrected by the HNPCC gene. If there is a change in the HNPCC gene, however, these errors may go undetected and accumulate. Their accumulation is thought to play a role in the development of this form of hereditary colon cancer.

Individuals 18 years of age and older with a family history of colon cancer, diagnosis of colon cancer at an early age (by 40 years old), or colon tumors or polyps that have replication errors may be eligible for this study. Closely related (first degree) adult family members may also participate, if a relative with colon cancer is found to have a mutation. The study will involve a minimum of one visit to NIH and a maximum of two visits to NIH in addition to two telephone interviews.

Visit 1 - Participants fill out a questionnaire assessing their knowledge, risk perception and personality traits, and receive information about HNPCC through an education and counseling session focusing on the potential benefits and risks of testing. They are then offered the option of HNPCC testing. Those who want to be tested provide a small blood sample (2 to 3 tablespoons) for genetic analysis. Those who choose not to be tested do not participate in any further visits but are contacted by telephone at a later time (see Telephone Interviews below). Any participant may change his or her mind at any time during the study regarding whether or not they want to be tested. Once the blood sample is collected, the individual may still decide not to receive the test results.

Visit 2 -For those choosing to undergo genetic testing. Test results are reviewed and discussed at this time with a genetic counselor, oncology (cancer) nurse and Medical Oncologist. (This visit takes place between 2-4 months after the blood sample collection.)

Telephone Interview #1- This interview takes place 6 months after the participant's decision not to be tested or the receipt of test results for those choosing testing. Participants will be interviewed by telephone. The interview collects information regarding mood, attitude, self-esteem, family interactions, cancer screening practices, and other factors.

Telephone Interview #2 - About a year after the test results are received (or a similar time frame for those who chose not to be tested), participants are once again surveyed by telephone. At this point, participation in the research is considered over.

Condition
Colonic Neoplasm Colonic Polyps Hereditary Neoplastic Syndrome

Further Study Details: 

Expected Total Enrollment:  900

This study proposes to identify: factors influencing decision-making regarding genetic testing Hereditary Nonpolyposis Colorectal Cancer and the psychological and behavioral outcomes of the testing process.

Consenting adults (greater than or equal to 18 years of age) with colon cancer who have either a tumor demonstrating microsatellite instability (MSI+) and/or a positive family history of colon cancer (meeting HNPCC selection criteria) are offered participation in the study through an informed consent session. Those choosing to participate complete a baseline questionnaire. Knowledge, expectations, mood, attitudes, perceived cancer risk, cancer worries, family relationships, spirituality, coping and health beliefs are assessed through the baseline questionnaire. Participants are then provided with an education session focused on HNPCC, the availability of genetic testing, its risks, limitations and potential benefits, and cancer screening recommendations for families with HNPCC. Following the educational session, participants are provided a client-centered counseling session to personally consider gene testing for HNPCC. Following testing, participants are presented with a choice of whether or not to undergo genetic testing. Those choosing genetic testing undergo informed consent specifically focused on the process of genetic testing and the potential risks, benefits and limitations of genetic testing. Psychological and behavioral outcomes are reassessed through telephone questionnaire at 6 and 12 months following risk notification or the decision not to undergo testing. For those receiving genetic test results, notification occurs in person along with discussion of available surveillance options. Follow-up counseling and support are provided for all individuals participating in the study. First degree adult relatives of individuals with identified HNPCC germline mutations are also offered participation in the study.

Genders Eligible for Study:  Both

Criteria

INCLUSION CRITERIA:
Patients 18 years of age or older.
1. Subjects presenting with a family history consistent with the Amsterdam criteria for HNPCC. 1) At least two relatives with histologically verified colorectal cancer; one of them should be a first degree relative of the other two. 2) At least two successive generations should be affected, and 3) In one of the relatives colorectal cancer should be diagnosed under 50 years of age, or;
2. Subjects diagnosed with colorectal cancer under 41 years of age (MSI status considered when tumor/polyp sample available) or;
3. Subjects with HNPCC associated cancer/polyps under the age of 41 which demonstrates a positive MSI phenotype, or;
4. Subjects with multiple primary HNPCC associated cancers regardless of family history, or;
5. Subjects with colorectal or other HNPCC associated tumor/polyp demonstrating a positive MSI phenotype and at least one second degree (or closer) and one third degree (or closer) relative with a HNPCC associated cancer; one of the affected family members (proband included) must have either right sided colon cancer, multiple primary HNPCC associated cancers or had the diagnosis of cancer prior to age 51 years, or;
6. Subjects who have a family member with a documented mutation in one of the HNPCC genes.

Maryland
      National Human Genome Research Institute (NHGRI), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  950165; 95-HG-0165
Record last reviewed:  July 29, 2004
Last Updated:  November 23, 2004
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001470
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08