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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00004210
First Posted: January 27, 2003
Last Update Posted: October 24, 2014
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
National Cancer Institute (NCI)
Information provided by (Responsible Party):
National Cancer Institute (NCI) ( National Human Genome Research Institute (NHGRI) )
  Purpose

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).


Condition Intervention
Colorectal Cancer Other: loss of heterozygosity analysis Other: microsatellite instability analysis Other: mutation analysis Other: counseling intervention

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Official Title: Outcomes in Education and Counseling for HNPCC Testing

Resource links provided by NLM:


Further study details as provided by National Cancer Institute (NCI) ( National Human Genome Research Institute (NHGRI) ):

Primary Outcome Measures:
  • Assessment of cancer risk perception, cancer screening practices, views regarding genetic services, and family communication about HNPCC / Lynch syndrome by family members

Enrollment: 900
Study Start Date: February 2000
Study Completion Date: June 2011
Primary Completion Date: June 2011 (Final data collection date for primary outcome measure)
Detailed Description:

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).

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004210


Locations
United States, Maryland
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office
Bethesda, Maryland, United States, 20892-1182
National Human Genome Research Institute
Bethesda, Maryland, United States, 20892-4470
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
National Cancer Institute (NCI)
Investigators
Study Chair: Donald W. Hadley, MS, CGC National Human Genome Research Institute (NHGRI)
  More Information

Publications:
Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT00004210     History of Changes
Obsolete Identifiers: NCT00001470
Other Study ID Numbers: CDR0000067459
NCI-95-HG-0165
NCI-NMOB-9501
NHGRI-95-HG-0165
First Submitted: January 21, 2000
First Posted: January 27, 2003
Last Update Posted: October 24, 2014
Last Verified: July 2009

Keywords provided by National Cancer Institute (NCI) ( National Human Genome Research Institute (NHGRI) ):
colon cancer
rectal cancer

Additional relevant MeSH terms:
Colorectal Neoplasms
Colorectal Neoplasms, Hereditary Nonpolyposis
Intestinal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Neoplasms
Digestive System Diseases
Gastrointestinal Diseases
Colonic Diseases
Intestinal Diseases
Rectal Diseases
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases