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The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)

18 Years
Open (Enrolling)
Bladder Cancer, Colorectal Cancer, Endometrial Cancer, Kidney Cancer, Skin Cancer, Uterus Cancer

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Trial Information

The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)

Participants will have a single sample (8-10 teaspoons) of blood collected at M. D.
Anderson, depending upon current health status. If participant unable or unwilling to give
a blood sample, saliva samples can be collected instead.

Participants will be asked to answer a series of questions. These questions will ask about
foods eaten either one year ago or one year before the first diagnosis of cancer. There
will also be questions about cooking methods as well as overall health, and vitamin and
medication use. Some of the questions are personal, but all answers will be kept strictly
private. The questionnaire will be sent to homes via U.S. or express mail. It may take
several hours to complete the survey, but there is no time limit on its completion.

Solid tumor material and colonoscopy specimens of normal tissue will be collected from
participants requiring either colonoscopy or surgery for routine clinical reasons. The
tumor fragments will be collected from specimens. Tissue required for a clinical pathology
diagnosis will not be used for research purposes.

About 2,000 patients and family members will take part in this study. All will be enrolled
at M. D. Anderson.

Inclusion Criteria:

1. All patients with a new referral for a diagnosis of colorectal cancer
(adenocarcinoma) and/or HNPCC-related cancers at the UTMDACC will be considered
potentially eligible for this study regardless of prior treatment.

2. Families maintained at the UTMDACC Hereditary Colon Cancer Registry that have a known
germline mutation in a mismatch repair gene or contain two or more first degree
relatives diagnosed with CRC and/or any HNPCC-related cancers, one of whom must be
less than or equal to 50 years at diagnosis.

3. First-degree and more distant relatives of individuals diagnosed with CRC and/or any
HNPCC-related cancers from either of the groups in 1 and 2 (above).

4. Any patient diagnosed with CRC and/or any HNPCC-related cancers less than or equal to
45 years of age.

5. Greater than or equal to age 18 at time of study.

6. Able to provide informed consent to participate in this study indicating that they
are aware of the investigational nature, in keeping with the policies of this

7. Non-HNPCC quartets, defined as parents and two offspring who do not carry a mismatch
repair gene mutation. These non-HNPCC quartets should have no personal history of
cancer, nor cancer in any first degree relatives of the quartet members, nor history
of trinucleotide repeat syndromes. Non-HNPCC parents in a quartet should be less than
34 years old at the time the offspring were born.

Exclusion Criteria:

1. Diagnosis of current major psychiatric disorder, per DSM-III-R (or DSM IV).

2. Age less than 18 years at time of enrollment.

Type of Study:


Study Design:

Observational Model: Family-Based, Time Perspective: Prospective

Outcome Measure:

Time to Onset for Colorectal Cancer

Outcome Description:

Primary endpoint is time to onset for colorectal cancer using Cox proportional hazard regression for determining the role that polymorphic variants of genes have on risk for development of HNPCC at an early age.

Outcome Time Frame:

Overall study period up to 15 years.

Safety Issue:


Principal Investigator

Patrick Lynch, MD, JD

Investigator Role:

Principal Investigator

Investigator Affiliation:

UT MD Anderson Cancer Center


United States: Institutional Review Board

Study ID:




Start Date:

September 1994

Completion Date:

Related Keywords:

  • Bladder Cancer
  • Colorectal Cancer
  • Endometrial Cancer
  • Kidney Cancer
  • Skin Cancer
  • Uterus Cancer
  • Bladder cancer
  • Colorectal cancer
  • Endometrial cancer
  • Kidney cancer
  • Skin cancer
  • Uterus cancer
  • Molecular Predisposition
  • Hereditary Nonpolyposis Colon Cancer
  • Molecular genetic testing
  • Gene mutations
  • Mutation analyses
  • Genetic polymorphisms
  • Family history of cancer
  • Early age of cancer onset
  • Little/no personal or family history of cancer
  • Spouses
  • Questionnaires
  • Blood sample
  • Saliva Sample
  • Urinary Bladder Neoplasms
  • Colonic Neoplasms
  • Endometrial Neoplasms
  • Skin Neoplasms
  • Carcinoma, Renal Cell
  • Kidney Neoplasms
  • Colorectal Neoplasms
  • Disease Susceptibility
  • Uterine Neoplasms
  • Adenoma
  • Colorectal Neoplasms, Hereditary Nonpolyposis



UT MD Anderson Cancer CenterHouston, Texas  77030