Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Young-Onset Microsatellite-Stable Colorectal Cancer

Summary: The goal of this laboratory research study is to learn more about genetic factors that may influence the risk for developing colorectal cancer at a young age.

Detailed description: Questionnaires:
  If you agree to take part in this study, you will fill out some questionnaires about your work, family history, medical history, and health habits. If you have already answered these questionnaires when you were registered as a patient at MD Anderson, the study staff will give you a copy and review your answers with you for any updates or if you have any questions. It should take about 10-15 minutes to complete the questionnaires.
  You will complete another questionnaire about your experience as a cancer survivor. These questions will be about your quality of life, well-being, concerns you may have, as well as the types of health care and follow-up care you are receiving. It should take about 20-25 minutes to complete this questionnaire.
  You may be given the questionnaires electronically on REDcap (a secure, web-based application used to collect data for research studies that you can access from your phone, tablet, or computer), over the phone (either with a member of the study staff asking questions or by using an electronic response system called IVR), at home through the mail, or in person by a member of the research staff at one of your MD Anderson visits.
  If mailed, a postage-paid return envelope will be provided for the return of the questionnaire.
  Blood or Saliva Collection:
  Blood (about 2 tablespoons) will be collected 1 time. If possible, this blood will be drawn at a scheduled routine blood draw, so that an additional needle stick is not required. However, if it cannot be scheduled during a planned blood draw, an additional needle stick will be needed.
  If you are unwilling or unable to give a blood sample, a saliva sample will be collected instead. While you are at MD Anderson, a saliva collection kit will be given to you.
  Length of Study:
  If you are an active patient who has undergone treatment at MD Anderson Cancer Center within the past year, you will receive additional questionnaires 6 and 12 months after you have completed treatment, and then every year for up to 5 years.
  This is an investigational study.
  Up to 1,000 patients and family members will take part in this study. All will be enrolled at MD Anderson.

Eligibility: Inclusion Criteria:
  1. MDACC patients who have adenocarcinoma of the colon or rectum, diagnosed between ages 18 through 50 (young-onset), or diagnosed at age 65 or older (later-onset), who had microsatellite status testing (by either immunohistochemistry or PCR testing or germline testing or a combination thereof).
  2. Patient must have sufficient command of the English language and mental capacity to provide consent.
  Family members who meet the following criteria will be eligible:
  1. Be a parent, sibling or child (first degree blood relative) of a registered MDACC patient meeting eligibility criteria above.
  2. Have sufficient command of the English language and mental capacity to provide consent.
  3. Family member must be at least 18 years of age at the time of study registration.
  Exclusion Criteria:
  1. Patient must NOT have known or suspected clinical diagnosis of a hereditary polyposis syndrome including hereditary adenomatous polyposis syndromes, hereditary nonadenomatous polyposis syndromes, and hereditary nonpolyposis syndromes.
  2. Patient's adenocarcinoma must NOT be microsatellite high or unstable (defined by loss of expression of at least one DNA mismatch repair genes MLH1, MSH2, MSH6, PMS2 by immunohistochemistry, and/or >30% allelic shift by microsatellite PCR testing).
  3. Patient must NOT have a known germline mutation in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2), APC, or MYH genes.

Relevance to patient case: not relevant