Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer



Status:Recruiting
Conditions:Colorectal Cancer, Cancer
Therapuetic Areas:Oncology
Healthy:No
Age Range:18 - Any
Updated:11/8/2014
Start Date:February 2000

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Outcomes in Education and Counseling for HNPCC Testing

RATIONALE: Identifying family and individual characteristics may help plan education and
counseling for patients who are considering genetic testing.

PURPOSE: This clinical trial is studying education and counseling to see what effect they
have in patients who are undergoing genetic testing for hereditary nonpolyposis colon cancer
(recruitment of new families with HNPCC stopped as of 04-26-06, recruitment of persons
within families already participating continues).

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).

DISEASE CHARACTERISTICS:

- Meets one of the following criteria:

- Family history consistent with hereditary nonpolyposis colon cancer (HNPCC)*

- At least 3 relatives with histologically proven colorectal cancer or
HNPCC-associated cancer and 1 is a first-degree relative of the other 2

- At least 2 successive generations affected

- Colorectal cancer (or HNPCC-associated cancer) diagnosed under age 50 in 1
of the relatives

- Diagnosis of colorectal cancer under age 41

- HNPCC-associated cancer/polyps* under age 41 with a microsatellite instability
(MSI) phenotype

- Multiple primary HNPCC-associated cancers* regardless of family history

- Colorectal or other HNPCC-associated tumor/polyp* demonstrating a positive MSI
phenotype and at least 1 second-degree (or closer) and 1 third-degree (or
closer) relative with a HNPCC-associated cancer

- 1 affected family member must have one of the following:

- Right-sided colon cancer

- Multiple primary HNPCC-associated cancers

- Diagnosis of cancer prior to age 51 NOTE: *Recruitment of new families
with HNPCC stopped as of 04-26-06, recruitment of persons within
families already participating continues

PATIENT CHARACTERISTICS:

Age:

- 18 and over

Performance status:

- Not specified

Life expectancy:

- Not specified

Hematopoietic:

- Not specified

Hepatic:

- Not specified

Renal:

- Not specified

PRIOR CONCURRENT THERAPY:

Biologic therapy:

- Not specified

Chemotherapy:

- Not specified

Endocrine:

- Not specified

Radiotherapy:

- Not specified

Surgery:

- Not specified
We found this trial at
2
sites
10 Center Dr # 10C103
Bethesda, Maryland 20892
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