Hereditary Colorectal Cancer SyndromeNCT02863172
Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes
An observational study of Hereditary Colorectal Cancer Syndrome, run by M.D. Anderson Cancer Center at 1 site in United States.
Trial summary
Objectives: 1. To examine the variations in clinical features, survival outcomes, family history, and health behavior among proband patients who are known or suspected to have a hereditary colorectal cancer syndrome 2. To compare the clinical features, survival outcomes, and health behavior of the proband vs. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Hereditary Colorectal Cancer Syndrome
- What is being tested?
- Questionnaires and Blood Draw/Saliva Sample
- Type of treatment
- Surgery or procedure, Lifestyle or therapy programme
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 22 May 2012to 30 May 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Participants that have, or are suspected to have, a hereditary colorectal cancer syndrome registered at MD Anderson and family members.
Who may be able to join
- Probands who meet the following criteria will be eligible:
- Patient must have or is suspected to have a hereditary CRC syndrome
- Patient must be at least 18 years of age at the time of study registration.
- 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:
- First- or second-degree relative of a registered MDACC patient who has met eligibility criteria for a Proband as defined above.
- Family member must be at least 18 years of age at the time of study registration.
- Family member must have sufficient command of the English language and mental capacity to provide consent
Who cannot join
- N/A
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Texas MD Anderson Cancer Center
Houston, Texas, 77330
About this study
Objectives:
- To examine the variations in clinical features, survival outcomes, family history, and health behavior among proband patients who are known or suspected to have a hereditary colorectal cancer syndrome
- To compare the clinical features, survival outcomes, and health behavior of the proband vs. his/her family members who may or may not be affected by the hereditary colorectal cancer syndrome
- To explore for correlations between germline genetic variations in both the probands and family members with observed variations in the overall disease phenotype across probands and kindreds, within a given syndrome. Disease phenotype is defined to include: (1) clinicopathologic features including patient demographics and oncologic outcomes; (2) clinical manifestations of disease including the timing, spectrum and severity of CRC and extracolonic cancers. Genetic variations may include the specific codon mutated, the type of mutation and sequence alteration (e.g. nonsense, missense etc), chromosomal/gene copy number changes, and gene polymorphisms.
- To explore for correlations between germline genetic variations in both the probands and family members with observed variations in somatic CRC tumor biology, including tumor pathology and other tumor molecular markers
Read the detailed description
Participants:
Questionnaires:
If participant agrees to take part in this study, participant will fill out a some questionnaires about participant's work, family history, medical history, and health habits. If participant has already answered these questionnaires when participant was registered as a patient at MD Anderson, the study staff will give participant a copy and review participant's answers with participant for any updates or if participant has any questions. It should take about 20 minutes to complete the questionnaires.
Participant will also complete a health and lifestyle questionnaire, which contains 20 questions for men and 22 questions for women. This questionnaire should take about 10 minutes to complete.
Participant may be given the questionnaires electronically on REDcap (a secure, web-based application used to collect data for research studies that participant can access from participant's 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 participant's MD Anderson visit. If mailed, a postage-paid return envelope will be provided for the return of the questionnaire.
Blood or Saliva Sample:
Blood (about 2-3 tablespoons) will be drawn. If possible, the blood will be drawn during an already scheduled blood draw to avoid additional needle sticks.
If participant is unwilling or unable to give a blood sample, participant may give a saliva sample instead. If participant is at MD Anderson, a saliva kit will be given to participant. If participant is not at MD Anderson, the kit will be mailed to participant with instructions for collecting the saliva sample and a prepaid envelope will be included to return the sample to the study staff.
The blood or saliva sample will be sent to the research laboratory of the study chairs at MD Anderson for testing.
Residual Tissue Collection:
If participant has tissue from procedures performed at MD Anderson, this tissue may be requested from participant's previous procedures for testing. If participant has had procedures done at another institution, participant may be asked to sign a waiver to allow the tissue from the outside institution to be sent to MD Anderson for testing.
Follow-Up Questionnaires:
Participant will also fill out a follow-up questionnaire at least 1 time in 5 years to update participant's medical, cancer, and family history. Each questionnaire will take approximately 20 minutes to complete.
Withdrawing from the Study:
Participant may withdraw from participation in this study at any time. If participant decides participant wants to stop taking part in this study, data collected about participant and data taken from the blood or saliva samples participant has provided up to the time participant withdraws will remain in study database and will be used for the purposes of the study.
Length of Study:
Participant's active participation on this study will be over after the blood, tissue, and/or saliva samples have been collected and participant has completed all of the questionnaires.
This is an investigational study.
Up to 2,000 patients and/or family members will take part in this study. All will be enrolled at MD Anderson.
Family Members:
Questionnaire:
Participant will complete a health questionnaire, which will collect information about participant's personal medical history, demographics (age, race, sex, and so on), and questions about participant's alcohol and tobacco use. This questionnaire should take about 20 minutes to complete.
Participant may be given the questionnaires electronically on REDcap (a secure, web-based application used to collect data for research studies that participant can access from participant's 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 participant's family member's MD Anderson visit.
If mailed, a postage-paid return envelope will be provided for the return of the questionnaire.
Blood or Saliva Sample:
If participant agrees to take part in this study and participant is able to come to MD Anderson, blood (about 2-3 tablespoons) will be drawn.
If participant is unwilling or unable to give a blood sample, participant may give a saliva sample instead. If participant is at MD Anderson, a saliva kit will be given to participant. If participant is not at MD Anderson, the kit will be mailed to participant with instructions for collecting the saliva sample and a prepaid envelope will be included to return the sample to the study staff.
The blood or saliva sample will be sent to the research laboratory of the study chairs at MD Anderson for testing.
Outside Tissue Collection:
If participant has had a procedure done at a hospital, surgical center, or doctor's office outside of MD Anderson, participant may optionally be asked to sign a waiver to allow tissue stored at the outside hospital, surgical center, or doctor's office to be sent to researchers at MD Anderson.
Follow-Up Questionnaires:
Participant will also fill out a follow-up questionnaire at least 1 time in 5 years to update participant's medical, cancer, and family history. Each questionnaire will take approximately 20 minutes to complete.
Withdrawing from the Study:
Participant may withdraw from participation in this study at any time. If participant decides participant wants to stop taking part in this study, data collected about participant and data taken from the blood or saliva samples participant has provided up to the time participant withdraws will remain in study database and will be used for the purposes of the study.
Length of Study Participant's active participation on this study will be over after the blood, outside tissue and/or saliva samples have been collected and participant has completed all of the questionnaires.
This is an investigational study. Up to 2,000 patients and/or family members will take part in this study. All will be enrolled at MD Anderson.
- Conditions
- Hereditary Colorectal Cancer Syndrome
- Being tested
- Questionnaires, Blood Draw/Saliva Sample
- Keywords
- Hereditary colorectal cancer syndrome, Questionnaires, Surveys, Blood sample, Saliva sample
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuestionnairesBehavioural
Also called Surveys
Consenting Proband Group: Participants fill out questionnaires about work, family history, medical history, and health habits at baseline. It should take about 20 minutes to complete the questionnaires. Participants also complete a health and lifestyle questionnaire, which contains 20 questions for men and 22 questions for women. Questionnaire should take about 10 minutes to complete. Follow-up questionnaire at least 1 time in 5 years to update medical, cancer, and family history.
Family Members (MDA Registered Patients) Group and Family Members (Not MDA Registered Patients) Group: Participants complete a health questionnaire, which collects information about their personal medical history, demographics (age, race, sex, and so on), and questions about their alcohol and tobacco use at baseline. Questionnaire should take about 20 minutes to complete. Participants complete follow-up questionnaire at least 1 time in 5 years to update their medical, cancer, and family history.
Blood Draw/Saliva SampleProcedure or surgery
About 2-3 tablespoons blood drawn. Participants may give a saliva sample instead.
| Study group | Role | What they receive |
|---|---|---|
| Consenting Proband Group | Questionnaires completed at baseline. Blood sample taken at baseline. Follow-up questionnaire completed at least 1 time in 5 years. Receives: Behavioral: Questionnaires; Procedure: Blood Draw/Saliva Sample | |
| Family Members (MDA Registered Patients) Group | Health questionnaire completed at baseline. Blood sample taken at baseline. Follow-up questionnaire completed at least 1 time in 5 years. Receives: Behavioral: Questionnaires; Procedure: Blood Draw/Saliva Sample | |
| Family Members (Not MDA Registered Patients) Group | Health questionnaire completed at baseline. Blood sample taken at baseline. Follow-up questionnaire completed at least 1 time in 5 years. Receives: Behavioral: Questionnaires; Procedure: Blood Draw/Saliva Sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Variations in Clinical Features Compared Between Proband Group and Family Member Group
Comparison made using 1-way ANOVA or Chi-squared tests.
Measured: 5 years
Secondary outcomes (1)
Variations in the Overall Disease Phenotype Between Proband Group and Family Member Group
Disease phenotype defined to include: (1) clinicopathologic features including patient demographics and oncologic outcomes; (2) clinical manifestations of disease including the timing, spectrum and severity of CRC and extracolonic cancers.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2016 (estimated)
- Study start22 May 2012
- Primary completion30 May 2027 (estimated)
- Study completion30 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Colorectal Cancer SyndromeStudies of the same condition, open and under way.
- More trials run by M.D. Anderson Cancer CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- M.D. Anderson Cancer Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Yi-Qian N. You, MD, Principal investigator, M.D. Anderson Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02863172
- Sponsor's protocol ID
- PA11-0567
- Other IDs
- 2015-00051016-Y1, 2016-00051406, NCI-2020-07461, 2016, 2015
- Status last verified
- Oct 2026
- First submitted
- 8 Aug 2016
- Last updated
- 7 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes
- ClinicalTrials.gov ID
- NCT02863172
- Acronym / sponsor ID
- PA11-0567
- Conditions
- Hereditary Colorectal Cancer Syndrome
- Keywords
- Hereditary colorectal cancer syndrome, Questionnaires, Surveys, Blood sample, Saliva sample
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- M.D. Anderson Cancer CenterUniversity, hospital or other
- Study start
- 22 May 2012 (actual)
- Primary completion
- 30 May 2027 (estimated)
- Study completion
- 30 May 2027 (estimated)
- First posted
- 11 Aug 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Objectives:
- To examine the variations in clinical features, survival outcomes, family history, and health behavior among proband patients who are known or suspected to have a hereditary colorectal cancer syndrome
- To compare the clinical features, survival outcomes, and health behavior of the proband vs. his/her family members who may or may not be affected by the hereditary colorectal cancer syndrome
- To explore for correlations between germline genetic variations in both the probands and family members with observed variations in the overall disease phenotype across probands and kindreds, within a given syndrome. Disease phenotype is defined to include: (1) clinicopathologic features including patient demographics and oncologic outcomes; (2) clinical manifestations of disease including the timing, spectrum and severity of CRC and extracolonic cancers. Genetic variations may include the specific codon mutated, the type of mutation and sequence alteration (e.g. nonsense, missense etc), chromosomal/gene copy number changes, and gene polymorphisms.
- To explore for correlations between germline genetic variations in both the probands and family members with observed variations in somatic CRC tumor biology, including tumor pathology and other tumor molecular markers
Detailed description
Participants:
Questionnaires:
If participant agrees to take part in this study, participant will fill out a some questionnaires about participant's work, family history, medical history, and health habits. If participant has already answered these questionnaires when participant was registered as a patient at MD Anderson, the study staff will give participant a copy and review participant's answers with participant for any updates or if participant has any questions. It should take about 20 minutes to complete the questionnaires.
Participant will also complete a health and lifestyle questionnaire, which contains 20 questions for men and 22 questions for women. This questionnaire should take about 10 minutes to complete.
Participant may be given the questionnaires electronically on REDcap (a secure, web-based application used to collect data for research studies that participant can access from participant's 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 participant's MD Anderson visit. If mailed, a postage-paid return envelope will be provided for the return of the questionnaire.
Blood or Saliva Sample:
Blood (about 2-3 tablespoons) will be drawn. If possible, the blood will be drawn during an already scheduled blood draw to avoid additional needle sticks.
If participant is unwilling or unable to give a blood sample, participant may give a saliva sample instead. If participant is at MD Anderson, a saliva kit will be given to participant. If participant is not at MD Anderson, the kit will be mailed to participant with instructions for collecting the saliva sample and a prepaid envelope will be included to return the sample to the study staff.
The blood or saliva sample will be sent to the research laboratory of the study chairs at MD Anderson for testing.
Residual Tissue Collection:
If participant has tissue from procedures performed at MD Anderson, this tissue may be requested from participant's previous procedures for testing. If participant has had procedures done at another institution, participant may be asked to sign a waiver to allow the tissue from the outside institution to be sent to MD Anderson for testing.
Follow-Up Questionnaires:
Participant will also fill out a follow-up questionnaire at least 1 time in 5 years to update participant's medical, cancer, and family history. Each questionnaire will take approximately 20 minutes to complete.
Withdrawing from the Study:
Participant may withdraw from participation in this study at any time. If participant decides participant wants to stop taking part in this study, data collected about participant and data taken from the blood or saliva samples participant has provided up to the time participant withdraws will remain in study database and will be used for the purposes of the study.
Length of Study:
Participant's active participation on this study will be over after the blood, tissue, and/or saliva samples have been collected and participant has completed all of the questionnaires.
This is an investigational study.
Up to 2,000 patients and/or family members will take part in this study. All will be enrolled at MD Anderson.
Family Members:
Questionnaire:
Participant will complete a health questionnaire, which will collect information about participant's personal medical history, demographics (age, race, sex, and so on), and questions about participant's alcohol and tobacco use. This questionnaire should take about 20 minutes to complete.
Participant may be given the questionnaires electronically on REDcap (a secure, web-based application used to collect data for research studies that participant can access from participant's 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 participant's family member's MD Anderson visit.
If mailed, a postage-paid return envelope will be provided for the return of the questionnaire.
Blood or Saliva Sample:
If participant agrees to take part in this study and participant is able to come to MD Anderson, blood (about 2-3 tablespoons) will be drawn.
If participant is unwilling or unable to give a blood sample, participant may give a saliva sample instead. If participant is at MD Anderson, a saliva kit will be given to participant. If participant is not at MD Anderson, the kit will be mailed to participant with instructions for collecting the saliva sample and a prepaid envelope will be included to return the sample to the study staff.
The blood or saliva sample will be sent to the research laboratory of the study chairs at MD Anderson for testing.
Outside Tissue Collection:
If participant has had a procedure done at a hospital, surgical center, or doctor's office outside of MD Anderson, participant may optionally be asked to sign a waiver to allow tissue stored at the outside hospital, surgical center, or doctor's office to be sent to researchers at MD Anderson.
Follow-Up Questionnaires:
Participant will also fill out a follow-up questionnaire at least 1 time in 5 years to update participant's medical, cancer, and family history. Each questionnaire will take approximately 20 minutes to complete.
Withdrawing from the Study:
Participant may withdraw from participation in this study at any time. If participant decides participant wants to stop taking part in this study, data collected about participant and data taken from the blood or saliva samples participant has provided up to the time participant withdraws will remain in study database and will be used for the purposes of the study.
Length of Study Participant's active participation on this study will be over after the blood, outside tissue and/or saliva samples have been collected and participant has completed all of the questionnaires.
This is an investigational study. Up to 2,000 patients and/or family members will take part in this study. All will be enrolled at MD Anderson.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Consenting Proband Group | – | Behavioral: Questionnaires, Procedure: Blood Draw/Saliva SampleQuestionnaires completed at baseline. Blood sample taken at baseline. Follow-up questionnaire completed at least 1 time in 5 years. |
| Family Members (MDA Registered Patients) Group | – | Behavioral: Questionnaires, Procedure: Blood Draw/Saliva SampleHealth questionnaire completed at baseline. Blood sample taken at baseline. Follow-up questionnaire completed at least 1 time in 5 years. |
| Family Members (Not MDA Registered Patients) Group | – | Behavioral: Questionnaires, Procedure: Blood Draw/Saliva SampleHealth questionnaire completed at baseline. Blood sample taken at baseline. Follow-up questionnaire completed at least 1 time in 5 years. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Participants that have, or are suspected to have, a hereditary colorectal cancer syndrome registered at MD Anderson and family members.
Key inclusion criteria (8 listed)
- Patient must have or is suspected to have a hereditary CRC syndrome
- Patient must be at least 18 years of age at the time of study registration.
- Patient must have sufficient command of the English language and mental capacity to provide consent
- First- or second-degree relative of a registered MDACC patient who has met eligibility criteria for a Proband as defined above.
- Family member must be at least 18 years of age at the time of study registration.
Key exclusion criteria (1 listed)
- N/A
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| QuestionnairesAlso: SurveysConsenting Proband Group: Participants fill out questionnaires about work, family history, medical history, and health habits at baseline. It should take about 20 minutes to complete the questionnaires. Participants also complete a health and lifestyle questionnaire, which contains 20 questions for men and 22 questions for women. Questionnaire should take about 10 minutes to complete. Follow-up questionnaire at least 1 time in 5 years to update medical, cancer, and family history. Family Members (MDA Registered Patients) Group and Family Members (Not MDA Registered Patients) Group: Participants complete a health questionnaire, which collects information about their personal medical history, demographics (age, race, sex, and so on), and questions about their alcohol and tobacco use at baseline. Questionnaire should take about 20 minutes to complete. Participants complete follow-up questionnaire at least 1 time in 5 years to update their medical, cancer, and family history. | Behavioural | Consenting Proband Group, Family Members (MDA Registered Patients) Group, Family Members (Not MDA Registered Patients) Group |
| Blood Draw/Saliva SampleAbout 2-3 tablespoons blood drawn. Participants may give a saliva sample instead. | Procedure or surgery | Consenting Proband Group, Family Members (MDA Registered Patients) Group, Family Members (Not MDA Registered Patients) Group |
Primary outcome
Variations in Clinical Features Compared Between Proband Group and Family Member Group
Time frame: 5 years
Comparison made using 1-way ANOVA or Chi-squared tests.
1 secondary outcome
Variations in the Overall Disease Phenotype Between Proband Group and Family Member Group
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Oct 2026.
- MD Anderson Cancer Center WebsiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Yi-Qian N. You, MD principal investigator
M.D. Anderson Cancer Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Colorectal Cancer Syndrome, run by M.D. Anderson Cancer Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 7 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yi-Qian N. You, MD (713-792-6940, YNYou@mdanderson.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Variations in Clinical Features Compared Between Proband Group and Family Member Group (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Oct 2026.