Clinical trial · Observational
Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
NCT04257045CI-TRIAL-00078770completedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (9)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Breast Carcinoma | Breast Carcinoma | ONTOLOGY_EXACT | 0.98 |
| Deleterious CDH1 Gene Mutation | — | UNRESOLVED | — |
| Deleterious DICER1 Gene Mutation | — | UNRESOLVED | — |
| Deleterious SMARCA4 Gene Mutation | — | UNRESOLVED | — |
| Deleterious STK11 Gene Mutation | — | UNRESOLVED | — |
| Endometrial Carcinoma | Endometrial Carcinoma | ONTOLOGY_EXACT | 0.98 |
| Fallopian Tube Carcinoma | Fallopian Tube Carcinoma | ONTOLOGY_EXACT | 0.98 |
| Ovarian Carcinoma | Ovarian Carcinoma | ONTOLOGY_EXACT | 0.98 |
| Primary Peritoneal Carcinoma | Primary Peritoneal Carcinoma | ONTOLOGY_EXACT | 0.98 |
Interventions
Interventions (3)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Interview | Other | — | UNRESOLVED |
| Questionnaire Administration | Other | — | UNRESOLVED |
| Survey Administration | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Observational (interview, survey)
- description
- 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.
- interventionNames
- Other: Interview
- Other: Questionnaire Administration
- Other: Survey Administration
Primary outcomes (4)
- measure
- Factors influencing decision-making and communication of genetic test results (Step 1)
- timeFrame
- Up to 3 years
- measure
- Rates of cascade testing among first-degree relatives (Step 2)
- timeFrame
- Up to 3 years
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * 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 * 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 Exclusion Criteria: * 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 * 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
References
Publications (0)
Data not yet available
No reference posted for this study.