Colorectal CancerNCT00004210
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer
A study testing loss of heterozygosity analysis, microsatellite instability analysis and mutation analysis in people with Colorectal Cancer, run by National Human Genome Research Institute (NHGRI) at 2 sites in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Colorectal Cancer
- What is being tested?
- loss of heterozygosity analysis, microsatellite instability analysis and mutation analysis
- How many people
- 900 participants
- Where
- 2 sitesUnited States
- Study dates
- Feb 2000to Jun 2011
- Phase
- Interventional
- Are there results?
- None posted in the registry
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
- No healthy volunteers
- Adult, Older adult
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
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office
Bethesda, Maryland, 20892-1182
National Human Genome Research Institute
Bethesda, Maryland, 20892-4470
About this study
Official title: Outcomes in Education and Counseling for HNPCC Testing
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).
Read the 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).
- Conditions
- Colorectal Cancer
- Being tested
- loss of heterozygosity analysis, microsatellite instability analysis, mutation analysis, counseling intervention
- Keywords
- colon cancer, rectal cancer
- Medical subject headings
- Colorectal Neoplasms, Colonic Neoplasms, Rectal Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
loss of heterozygosity analysisOther
microsatellite instability analysisOther
mutation analysisOther
counseling interventionOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of cancer risk perception, cancer screening practices, views regarding genetic services, and family communication about HNPCC / Lynch syndrome by family members
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2003 (estimated)
- Study startFeb 2000
- Primary completionJun 2011
- Study completionJun 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Colorectal CancerStudies of the same condition, open and under way.
- 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
- Interventional
- Phase
- Phase N/A
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 900 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Cancer Institute (NCI)
- Responsible party
- Sponsor
- Investigators
- Donald W. Hadley, MS, CGC, Study chair, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004210
- Sponsor's protocol ID
- CDR0000067459
- Other IDs
- NCI-95-HG-0165, NCI-NMOB-9501, NHGRI-95-HG-0165
- Status last verified
- Jul 2009
- First submitted
- 21 Jan 2000
- Last updated
- 24 Oct 2014
- Results posted
- No
Publications
Hadley DW, Ashida S, Jenkins JF, Calzone KA, Kirsch IR, Koehly LM. Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation. Clin Genet. 2011 Apr;79(4):321-8. doi: 10.1111/j.1399-0004.2010.01622.x. Epub 2011 Jan 19.
PubMed 21204803Hadley DW, Jenkins JF, Dimond E, de Carvalho M, Kirsch I, Palmer CG. Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2004 Jan 1;22(1):39-44. doi: 10.1200/JCO.2004.06.128.
PubMed 14701766Hadley DW, Jenkins J, Dimond E, Nakahara K, Grogan L, Liewehr DJ, Steinberg SM, Kirsch I. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med. 2003 Mar 10;163(5):573-82. doi: 10.1001/archinte.163.5.573.
PubMed 12622604Hadley DW, Eliezer D, Addissie Y, Goergen A, Ashida S, Koehly L. Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome. Sci Rep. 2020 Sep 29;10(1):15959. doi: 10.1038/s41598-020-72938-z.
PubMed 32994442
Study at a glance
From the registry record, last updated by the sponsor on 24 Oct 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Outcomes in Education and Counseling for HNPCC Testing
- ClinicalTrials.gov ID
- NCT00004210
- Acronym / sponsor ID
- CDR0000067459
- Conditions
- Colorectal Cancer
- Keywords
- colon cancer, rectal cancer
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 900 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Collaborators
- National Cancer Institute (NCI)
- Study start
- Feb 2000
- Primary completion
- Jun 2011 (actual)
- Study completion
- Jun 2011 (actual)
- First posted
- 27 Jan 2003 (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.
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).
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).
Study design
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
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 |
|---|---|---|
| loss of heterozygosity analysis | Other | – |
| microsatellite instability analysis | Other | – |
| mutation analysis | Other | – |
| counseling intervention | Other | – |
Primary outcome
Assessment of cancer risk perception, cancer screening practices, views regarding genetic services, and family communication about HNPCC / Lynch syndrome by family members
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Oct 2014.
- Results publication: PubMed 21204803Hadley DW, Ashida S, Jenkins JF, Calzone KA, Kirsch IR, Koehly LM. Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation. Clin Genet. 2011 Apr;79(4):321-8. doi: 10.1111/j.1399-0004.2010.01622.x. Epub 2011 Jan 19.
- Results publication: PubMed 14701766Hadley DW, Jenkins JF, Dimond E, de Carvalho M, Kirsch I, Palmer CG. Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2004 Jan 1;22(1):39-44. doi: 10.1200/JCO.2004.06.128.
- Results publication: PubMed 12622604Hadley DW, Jenkins J, Dimond E, Nakahara K, Grogan L, Liewehr DJ, Steinberg SM, Kirsch I. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med. 2003 Mar 10;163(5):573-82. doi: 10.1001/archinte.163.5.573.
- Derived from this study: PubMed 32994442Hadley DW, Eliezer D, Addissie Y, Goergen A, Ashida S, Koehly L. Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome. Sci Rep. 2020 Sep 29;10(1):15959. doi: 10.1038/s41598-020-72938-z.
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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. This study is not recruiting at the moment.
Donald W. Hadley, MS, CGC study chair
National Human Genome Research Institute (NHGRI)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing loss of heterozygosity analysis, microsatellite instability analysis and mutation analysis in people with Colorectal Cancer, run by National Human Genome Research Institute (NHGRI) at 2 sites 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?
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: finished, as of the sponsor's last update on 24 Oct 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of cancer risk perception, cancer screening practices, views regarding genetic services, and family communication about HNPCC / Lynch syndrome by family members. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00004210, which also lists 4 linked publications.
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 24 Oct 2014.