Patient case: 45-year-old female with colon cancer; genetic feature: PIK3CA (E545K)

Clinical trial: Genetic and Environmental Risk Assessment for Colorectal Cancer in Healthy Participants

Summary: RATIONALE: Evaluating the knowledge and attitudes of healthy participants toward a new diet and gene test for colorectal cancer risk may help doctors improve acceptance of colorectal cancer screening.
  PURPOSE: This clinical trial is studying the knowledge and attitudes of healthy participants toward genetic and environmental risk assessment for colorectal cancer.

Detailed description: OBJECTIVES:
  Part 1
  -  Determine the willingness of healthy participants to enroll in a genetic and environmental risk assessment for colorectal cancer.
  -  Determine the impact of decision counseling on knowledge and attitudes about genetic and environmental risk assessment (GERA) and colorectal cancer screening in these participants.
  -  Determine participants' understanding of GERA.
  -  Determine participants' response to GERA results.
  Part 2
  -  Determine awareness of, and interest in, diet and genetic assessment for colorectal cancer among healthy participants at average risk for colorectal cancer who have not undergone regular colon cancer screening.
  -  Determine participants' level of knowledge of this assessment.
  -  Determine participants' rate of acceptance into this study.
  OUTLINE: This is a 2-part pilot study.
  -  Part 1: Participants complete a baseline questionnaire on attitudes, beliefs, and knowledge about colorectal cancer (CRC), CRC screening, and diet and genetic testing for colorectal cancer risk. Two-four weeks later, participants are educated about CRC screening options and undergo genetic and environmental risk assessment (GERA) decision counseling about the methylene tetrahydrofolate reductase (MTHFR) gene and dietary folate intake. Participants who decide to undergo GERA undergo blood testing for MTHFR polymorphisms and folate levels. Participants whose blood tests indicate low folate levels are further counseled about dietary folate intake.
  -  Part 2: Participants complete a questionnaire on attitudes, beliefs, and knowledge about CRC, CRC screening, and diet and genetic testing for colorectal cancer risk.
  Participants in part 1 are followed at 1 week, 1 month, and then at 6 months.
  PROJECTED ACCRUAL: A total of 110 participants (60 for part 1 and 50 for part 2) will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS:
  -  Healthy participants
  -  Eligible for colorectal cancer screening
  -  No personal or family history of colorectal cancer
  -  No more than 1 first-degree relative who has had colorectal cancer
  -  Part 1:
  -  Has not undergone regular screening for colorectal cancer
  -  Part 2:
  -  Not currently undergoing regular colon cancer testing, including any of the following:
  -  Fecal occult blood testing within the past year
  -  Flexible sigmoidoscopy or colonoscopy within the past 5 years
  PATIENT CHARACTERISTICS:
  Age
  -  50 to 74
  Performance status
  -  Not specified
  Life expectancy
  -  Not specified
  Hematopoietic
  -  Not specified
  Hepatic
  -  Not specified
  Renal
  -  Not specified
  Other
  -  No inflammatory bowel disease (part 1 only)
  -  No concurrent health issues that would preclude study participation (part 1 only)
  -  No history of cancer except basal cell or squamous cell skin cancer (part 2 only)
  -  Able to speak and read English (part 2 only)
  PRIOR CONCURRENT THERAPY:
  Biologic therapy
  -  Not specified
  Chemotherapy
  -  Not specified
  Endocrine therapy
  -  Not specified
  Radiotherapy
  -  Not specified
  Surgery
  -  Not specified

Relevance to patient case: not relevant