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CompletedNCT04257045Updated Jul 12, 2024

Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives

An observational study in Breast Carcinoma, Deleterious CDH1 Gene Mutation and Deleterious DICER1 Gene Mutation, sponsored by M.D. Anderson Cancer Center. Completed at 2 sites in United States. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-07-12.

Sponsored by M.D. Anderson Cancer Center · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
46
Ages
18 Years and older
Sex
All
01

Study 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. 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:

I. 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.

02

Conditions studied

  • Breast Carcinoma
  • Deleterious CDH1 Gene Mutation
  • Deleterious DICER1 Gene Mutation
  • Deleterious SMARCA4 Gene Mutation
  • Deleterious STK11 Gene Mutation
  • Endometrial Carcinoma
  • Fallopian Tube Carcinoma
  • Ovarian Carcinoma
  • Primary Peritoneal Carcinoma
03

In context

Breast Neoplasms

12,815 studies on the registry are indexed under Breast Neoplasms; 2,920 are open to participants now.

This study's enrollment of 46 is below the median of 184 across 2,711 observational studies indexed under Breast Neoplasms.

Browse Breast Neoplasms studies →

Lead sponsor

M.D. Anderson Cancer Center is the lead sponsor of 3,044 studies on the registry; 578 are open to participants now.

Of its 608 completed or terminated interventional studies of FDA-regulated products, 407 (67%) have results posted.

Browse M.D. Anderson Cancer Center studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

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.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

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
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
46 participants (actual)

Groups and cohorts

  • 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.

    Other: Interview · Other: Questionnaire Administration · Other: Survey Administration

Interventions

  • OtherInterview

    Participate in semi-structure, in-depth qualitative interviews

  • OtherQuestionnaire Administration

    Complete questionnaires

  • OtherSurvey Administration

    Complete survey

06

What researchers measure

Primary outcomes

  1. Factors influencing decision-making and communication of genetic test results (Step 1)

    Time frame: Up to 3 years

  2. 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.

    Time frame: Up to 3 years

  3. 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.

    Time frame: Up to 3 years

  4. Frequency of reported barriers (Step 2)

    Time frame: Up to 3 years

07

Study locations

2 sites
  • University of Alabama at Birmingham Cancer Center
    Birmingham, Alabama 35233, United States
  • M D Anderson Cancer Center
    Houston, Texas 77030, United States
08

References and documents

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 12, 2024, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT04257045
Lead sponsor
M.D. Anderson Cancer Center
Collaborators
National Cancer Institute (NCI)
Responsible party
Sponsor
First posted
Feb 5, 2020
Start date
Aug 21, 2019
Primary completion
Jul 9, 2024
Completion
Jul 9, 2024
Last update
Jul 12, 2024

Study contacts

Jose A Rauh-Hain
principal investigator · M.D. Anderson Cancer Center

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2024. You cannot join it, but the record below documents what was studied.

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