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

NCT04257045 | Completed

• 2 other identifiers: 2019-0239NCI-2019-05371
• Study Type: observational
• Target: 46
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

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

Outcome Measures

Primary Outcomes (4)

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

  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.

  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.

  Up to 3 years

• Frequency of reported barriers (Step 2)

  Up to 3 years

Study Arms (1)

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

Interview OTHER

Participate in semi-structure, in-depth qualitative interviews

Observational (interview, survey)

Questionnaire Administration OTHER

Complete questionnaires

Observational (interview, survey)

Survey Administration OTHER

Complete survey

Observational (interview, survey)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• M.D. Anderson Cancer Center: lead
• National Cancer Institute (NCI): collaborator

Study Sites (2)

University of Alabama at Birmingham Cancer Center

Birmingham, Alabama, 35233, United States

Location

M D Anderson Cancer Center

Houston, Texas, 77030, United States

Location

Related Links

• M D Anderson Cancer Center

MeSH Terms

Conditions

Breast Neoplasms; Endometrial Neoplasms; Fallopian Tube Neoplasms; Ovarian Neoplasms

Interventions

Interviews as Topic

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Uterine Neoplasms; Genital Neoplasms, Female; Urogenital Neoplasms; Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Fallopian Tube Diseases; Adnexal Diseases; Endocrine Gland Neoplasms; Ovarian Diseases; Endocrine System Diseases; Gonadal Disorders

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Jose A Rauh-Hain

  M.D. Anderson Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 4, 2020
• First Posted: February 5, 2020
• Study Start: August 21, 2019
• Primary Completion: July 9, 2024
• Study Completion: July 9, 2024
• Last Updated: July 12, 2024

Record last verified: 2024-07

Locations

US (2)