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

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• 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

• 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