Breast CarcinomaNCT04257045
Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
An observational study of Breast Carcinoma and Deleterious CDH1 Gene Mutation, run by M.D. Anderson Cancer Center at 2 sites in United States.
Trial summary
This trial collects information about factors that affect communication of genetic test results, decision-making, and access to genetic testing in women with hereditary gynecological cancers. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Breast Carcinoma, Deleterious CDH1 Gene Mutation, Deleterious DICER1 Gene Mutation
- What is being tested?
- Interview, Questionnaire Administration and Survey Administration
- How many people
- 46 participants
- Where
- 2 sitesUnited States
- Study dates
- 21 Aug 2019to 9 Jul 2024
- Phase
- Observational
- 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
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients currently receiving diagnostic, treatment, or follow-up care in the outpatient Gynecologic Oncology and Medical Oncology clinics at Lyndon B. Johnson Hospital (LBJ), and their first-degree relatives.
Who may be able to join
- STEP 1 (PROBANDS): Speaks and/or reads English or Spanish
- STEP 1 (PROBANDS): Currently receiving diagnostic, treatment, or follow-up care in the outpatient gynecologic oncology and medical oncology clinics at LBJ
- STEP 1 (PROBANDS): Has completed genetic counseling, with pedigree available in the medical record (LBJ)
- STEP 1 (PROBANDS): Diagnosed with female-breast, ovarian, fallopian tube, primary peritoneal, endometrial cancer on or after January 1, 2014
- STEP 1 (PROBANDS): Has a confirmed deleterious or suspected deleterious (pathogenic) variant in a hereditary gynecologic or breast cancer predisposition gene (including BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, BRIP1, PALB2, RAD51C, RAD51D, STK11, DICER1, SMARCA4, ATM, CHEK2, PTEN, TP53, CDH1, BARD1)
- STEP 1 (FIRST-DEGREE RELATIVE [FDR]): Speaks and/or reads English or Spanish
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- STEP 1 (FDR): Is a first-degree relative of proband (son, daughter, full-brother, full-sister, mother, father)
- STEP 1 (FDR): Is present with proband at time of recruitment, or can be contacted by telephone via a United States (U.S.) telephone number
- STEP 1 (FDR): Is aware of proband's genetic testing result/mutation status, per proband report
- STEP 2 (PROBANDS): Speaks or reads English or Spanish
- STEP 2 (PROBANDS): Currently receives diagnostic, treatment, or follow-up care for female-breast cancer in the outpatient medical oncology clinics at LBJ; or currently receives diagnostic, treatment, or follow-up care for ovarian, fallopian tube, primary peritoneal or endometrial cancer in the outpatient gynecologic oncology clinic at LBJ or the outpatient gynecologic oncology clinic at The University of Texas MD Anderson Cancer Center (MD Anderson)
- STEP 2 (PROBANDS): Diagnosed with eligible cancer on or after January 1, 2014
- STEP 2 (PROBANDS): Has completed genetic counseling, with a pedigree available in the medical record (LBJ) or internal clinical and research database (progeny at MD Anderson)
- STEP 2 (PROBANDS): Has a confirmed deleterious or suspected deleterious (pathogenic) variant in a hereditary gynecologic or breast cancer predisposition gene (including BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, BRIP1, PALB2, RAD51C, RAD51D, STK11, DICER1, SMARCA4, ATM, CHEK2, PTEN, TP53, CDH1, BARD1)
- STEP 2 (FDR): Speak and/or reads English or Spanish
- STEP 2 (FDR): First-degree relative of proband (son, daughter, full-brother, full-sister, mother, father)
- STEP 2 (FDR): Is present with proband at time of recruitment, or can be contacted by telephone via a U.S. telephone number
- STEP 2 (FDR): Is aware of proband's genetic testing result/mutation status, per proband report
Who cannot join
- STEP 1 (PROBANDS): No longer receives outpatient care at LBJ
- STEP 1 (PROBANDS): Has a negative genetic testing result, a result identifying only a variant of uncertain significance, or results and pedigree that cannot be confirmed in the electronic medical record
- STEP 1 (PROBANDS): Is unwilling or unable to provide informed consent
- STEP 1 (FIRST-DEGREE RELATIVE [FDR]): Unwilling or unable to provide informed consent
- STEP 2 (PROBANDS): No longer receives outpatient care at LBJ or MD Anderson
- STEP 2 (PROBANDS): Has a negative genetic testing result, a result identifying only a variant of uncertain significance, or results and pedigree that cannot be confirmed in the electronic medical record
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- STEP 2 (PROBANDS): Unwilling or unable to provide informed consent
- STEP 2 (PROBANDS): Participated in step 1 interviews
- STEP 2 (FDR): Unwilling or unable to provide informed consent
- STEP 2 (FDR): Reports no knowledge of proband's genetic testing status
- STEP 2 (FDR): Participated in step 1 interviews
Trial locations and contacts
2 sites in 1 country.
United States2 sites
University of Alabama at Birmingham Cancer Center
Birmingham, Alabama, 35233
M D Anderson Cancer Center
Houston, Texas, 77030
About this study
This trial collects information about factors that affect communication of genetic test results, decision-making, and access to genetic testing in women with hereditary gynecological cancers. Studying individuals who are positive for a genetic mutation and immediate biological family members (including a parent, full-sibling, or child) may help identify cancer genes and other persons at risk.
Read the detailed description
PRIMARY OBJECTIVES:
- Identify and explore factors influencing the communication of genetic testing results from probands (patients with confirmed hereditary cancer predisposition syndrome) to their first-degree relatives. (Step 1) II. Identify and explore factors influencing decision making and pursuit of cascade testing among first-degree relatives of probands. (Step 1) III. Estimate the uptake of cascade testing by first-degree relatives of probands at a safety-net hospital and the uptake of cascade testing by first-degree relatives of probands at a comprehensive cancer center. (Step 2) IV. Estimate the frequency of reported factors that influence communication, decision-making, and pursuit of cascade testing among probands and their first-degree family members at a safety-net hospital and at a comprehensive cancer center. (Step 2) V. Explore similarities and differences in cascade genetic testing rates and reported barriers to cascade genetic testing of first-degree relatives at probands from a safety-net hospital and a comprehensive cancer center. (Step 2)
OUTLINE:
STEP I: Patients and first degree relatives participate in semi-structure, in-depth interviews about genetic testing over 45-60 minutes.
STEP II: Patients and first degree relatives complete survey questionnaires over 20 minutes.
- Conditions
- Breast Carcinoma, Deleterious CDH1 Gene Mutation, Deleterious DICER1 Gene Mutation, Deleterious SMARCA4 Gene Mutation, Deleterious STK11 Gene Mutation, Endometrial Carcinoma
- Being tested
- Interview, Questionnaire Administration, Survey Administration
- Medical subject headings
- Breast Neoplasms, Endometrial Neoplasms, Fallopian Tube Neoplasms, Ovarian Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
InterviewOther
Participate in semi-structure, in-depth qualitative interviews
Questionnaire AdministrationOther
Complete questionnaires
Survey AdministrationOther
Complete survey
| Study group | Role | What they receive |
|---|---|---|
| Observational (interview, survey) | STEP I: Patients and first degree relatives participate in semi-structure, in-depth interviews about genetic testing over 45-60 minutes.
STEP II: Patients and first degree relatives complete survey questionnaires over 20 minutes. Receives: Other: Interview; Other: Questionnaire Administration; Other: Survey Administration |
What is being measured
The primary outcome is the main question the study is designed to answer.
Factors influencing decision-making and communication of genetic test results (Step 1)
Measured: Up to 3 years
Rates of cascade testing among first-degree relatives (Step 2)
Will be calculated using summary statistics. Will construct a generalized linear mixed model (GLMM) with a logit link function to estimate rate of cascade testing among first-degree relatives.
Measured: Up to 3 years
Genetic testing rate (Step 2)
Will construct a model with no predictors and will calculate the probability of genetic testing using the model's intercept as well as calculate the 95% confidence interval of this probability. Will then test factors associated with testing rates (including site [Lyndon B. Johnson Hospital (LBJ) vs. MD Anderson (MDA)], socioeconomic, demographic, medical history, and determinants) by including these as independent variables in our GLMMs.
Measured: Up to 3 years
Frequency of reported barriers (Step 2)
Measured: Up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Feb 2020
- Study start21 Aug 2019
- Primary completion9 Jul 2024
- Study completion9 Jul 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast CarcinomaStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 46 participants (actual)
Sponsor and investigators
- Lead sponsor
- M.D. Anderson Cancer Center
- Sponsor type
- University, hospital or other
- Collaborators
- National Cancer Institute (NCI)
- Responsible party
- Sponsor
- Investigators
- Jose A Rauh-Hain, Principal investigator, M.D. Anderson Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04257045
- Sponsor's protocol ID
- 2019-0239
- Other IDs
- NCI-2019-05371, 2019-0239
- Status last verified
- Jul 2024
- First submitted
- 4 Feb 2020
- Last updated
- 12 Jul 2024
- 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 12 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
- ClinicalTrials.gov ID
- NCT04257045
- Acronym / sponsor ID
- 2019-0239
- Conditions
- Breast Carcinoma, Deleterious CDH1 Gene Mutation, Deleterious DICER1 Gene Mutation, Deleterious SMARCA4 Gene Mutation, Deleterious STK11 Gene Mutation, Endometrial Carcinoma
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 46 participants (actual)
- Lead sponsor
- M.D. Anderson Cancer CenterUniversity, hospital or other
- Collaborators
- National Cancer Institute (NCI)
- Study start
- 21 Aug 2019 (actual)
- Primary completion
- 9 Jul 2024 (actual)
- Study completion
- 9 Jul 2024 (actual)
- First posted
- 5 Feb 2020 (actual)
- 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.
This trial collects information about factors that affect communication of genetic test results, decision-making, and access to genetic testing in women with hereditary gynecological cancers. Studying individuals who are positive for a genetic mutation and immediate biological family members (including a parent, full-sibling, or child) may help identify cancer genes and other persons at risk.
Detailed description
PRIMARY OBJECTIVES:
- Identify and explore factors influencing the communication of genetic testing results from probands (patients with confirmed hereditary cancer predisposition syndrome) to their first-degree relatives. (Step 1) II. Identify and explore factors influencing decision making and pursuit of cascade testing among first-degree relatives of probands. (Step 1) III. Estimate the uptake of cascade testing by first-degree relatives of probands at a safety-net hospital and the uptake of cascade testing by first-degree relatives of probands at a comprehensive cancer center. (Step 2) IV. Estimate the frequency of reported factors that influence communication, decision-making, and pursuit of cascade testing among probands and their first-degree family members at a safety-net hospital and at a comprehensive cancer center. (Step 2) V. Explore similarities and differences in cascade genetic testing rates and reported barriers to cascade genetic testing of first-degree relatives at probands from a safety-net hospital and a comprehensive cancer center. (Step 2)
OUTLINE:
STEP I: Patients and first degree relatives participate in semi-structure, in-depth interviews about genetic testing over 45-60 minutes.
STEP II: Patients and first degree relatives complete survey questionnaires over 20 minutes.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Observational (interview, survey) | – | Other: Interview, Other: Questionnaire Administration, Other: Survey AdministrationSTEP I: Patients and first degree relatives participate in semi-structure, in-depth interviews about genetic testing over 45-60 minutes. STEP II: Patients and first degree relatives complete survey questionnaires over 20 minutes. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients currently receiving diagnostic, treatment, or follow-up care in the outpatient Gynecologic Oncology and Medical Oncology clinics at Lyndon B. Johnson Hospital (LBJ), and their first-degree relatives.
Key inclusion criteria (18 listed)
- STEP 1 (PROBANDS): Speaks and/or reads English or Spanish
- STEP 1 (PROBANDS): Currently receiving diagnostic, treatment, or follow-up care in the outpatient gynecologic oncology and medical oncology clinics at LBJ
- STEP 1 (PROBANDS): Has completed genetic counseling, with pedigree available in the medical record (LBJ)
- STEP 1 (PROBANDS): Diagnosed with female-breast, ovarian, fallopian tube, primary peritoneal, endometrial cancer on or after January 1, 2014
- STEP 1 (PROBANDS): Has a confirmed deleterious or suspected deleterious (pathogenic) variant in a hereditary gynecologic or breast cancer predisposition gene (including BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, BRIP1, PALB2, RAD51C, RAD51D, STK11, DICER1, SMARCA4, ATM, CHEK2, PTEN, TP53, CDH1, BARD1)
Key exclusion criteria (11 listed)
- STEP 1 (PROBANDS): No longer receives outpatient care at LBJ
- STEP 1 (PROBANDS): Has a negative genetic testing result, a result identifying only a variant of uncertain significance, or results and pedigree that cannot be confirmed in the electronic medical record
- STEP 1 (PROBANDS): Is unwilling or unable to provide informed consent
- STEP 1 (FIRST-DEGREE RELATIVE [FDR]): Unwilling or unable to provide informed consent
- STEP 2 (PROBANDS): No longer receives outpatient care at LBJ or MD Anderson
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 |
|---|---|---|
| InterviewParticipate in semi-structure, in-depth qualitative interviews | Other | Observational (interview, survey) |
| Questionnaire AdministrationComplete questionnaires | Other | Observational (interview, survey) |
| Survey AdministrationComplete survey | Other | Observational (interview, survey) |
Primary outcome
Factors influencing decision-making and communication of genetic test results (Step 1)
Time frame: Up to 3 years
Rates of cascade testing among first-degree relatives (Step 2)
Time frame: Up to 3 years
Will be calculated using summary statistics. Will construct a generalized linear mixed model (GLMM) with a logit link function to estimate rate of cascade testing among first-degree relatives.
Genetic testing rate (Step 2)
Time frame: Up to 3 years
Will construct a model with no predictors and will calculate the probability of genetic testing using the model's intercept as well as calculate the 95% confidence interval of this probability. Will then test factors associated with testing rates (including site [Lyndon B. Johnson Hospital (LBJ) vs. MD Anderson (MDA)], socioeconomic, demographic, medical history, and determinants) by including these as independent variables in our GLMMs.
Frequency of reported barriers (Step 2)
Time frame: Up to 3 years
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 12 Jul 2024.
- M D Anderson Cancer CenterLink 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. This study is not recruiting at the moment.
Jose A Rauh-Hain principal investigator
M.D. Anderson Cancer Center
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Carcinoma and Deleterious CDH1 Gene Mutation, run by M.D. Anderson Cancer Center 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?
The sponsor lists 18 inclusion and 11 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: finished, as of the sponsor's last update on 12 Jul 2024. 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?
Factors influencing decision-making and communication of genetic test results (Step 1) (time frame: Up to 3 years). The study lists 4 primary outcomes in all. 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 12 Jul 2024.