Why do patients decline cascade testing in families with an identified mutation associated with hereditary gynecologic cancers?

2020 ◽  
Vol 159 ◽  
pp. 257
Author(s):  
K.E. Baumann ◽  
A.L. Brodsky ◽  
B. Bhuptani ◽  
K. Lutz ◽  
D. Gerber ◽  
...  
Keyword(s):  
Gynecologic Cancers ◽  
Cascade Testing

Characteristics of probands with mutations predisposing to gynecologic cancers enrolled in a facilitated cascade testing protocol.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13682-e13682
Author(s):  
Kristina Hwang ◽  
Katherine Baumann ◽  
Allison Brodsky ◽  
Kathleen Lutz ◽  
Deanna Gerber ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Diagnosis ◽  
Genetic Mutation ◽  
Personal History ◽  
Gynecologic Cancers ◽  
Cascade Testing ◽  
Pathogenic Mutations ◽  
History Of ◽  
Mutation Identification ◽  
History Of Cancer

e13682 Background: We sought to evaluate the feasibility of obtaining genetic testing (GT) for first- or second-degree (1°, 2°) family members of a proband known to have actionable germline mutation associated with endometrial and/or ovarian cancer through a coordinated referral system. Here we characterize the initial probands and discuss the time frame of their enrollment in facilitated cascade testing (CT). Methods: Patients with pathogenic mutations associated with gynecologic cancers were determined from cancer genetics and gynecologic oncology clinics. Consenting patients completed a RedCap survey on personal cancer history and history of GT. They were then asked to contact 1° and/or 2° relatives regarding their GT results. Relatives were advised to contact our team. Relatives who consented to the study were referred for GT and contacted for follow up to ascertain whether they received GT and/or took action to reduce cancer risk. Results: From 3/2019- 1/2020, this study has accrued 39 probands. The median age was 39 years (range: 25-68). The most commonly expressed gene mutations were BRCA1 or BRCA2 (87.18%, n=34). Other mutations included BRIP1, MLH1, MSH2, MSH6, and PMS2. The majority (62%) of probands had no personal history of cancer. Among those who had a history of cancer (n=15), 80% had breast and/or ovarian cancer, and 80% reported their genetic mutation was discovered at or after the time of their cancer diagnosis. Median age at time of enrollment in CT was 49 years (range: 29-66) for patients with a history of cancer and 32 years (range: 25- 68) for those without, (p=0.009). Among all probands, the median time between mutation identification and enrollment in CT was 2 years (range=0 to 11). There was no significant difference in time between mutation identification and enrollment in CT when comparing those with and without cancer histories (p=0.5). Conclusions: These results suggest that patients with pathogenic mutations predisposing to gynecologic cancer are willing to undergo CT even if they have no personal history of cancer. Patients with a history of cancer tend to be older at time of enrollment in CT, likely because most discover their genetic mutation at or after the time of cancer diagnosis. With an average of 2 years elapsed between time of mutation identification and enrollment in CT, there is need for expansion of CT accessibility. Increased education and awareness among patients and providers in identifying those who may benefit from CT, screening, and risk reducing surgery to prevent cancer is needed.

Other gynecologic cancers

2003 ◽  
Author(s):  
Eliane Duarte-Franco ◽  
Eduardo L. Franco
Keyword(s):  
Gynecologic Cancers

Cascade testing für erbliche Tumorerkrankungen: Eine Meta-Analyse

2020 ◽  
Author(s):  
A Lackner ◽  
X Li ◽  
R Kahn ◽  
Nelson B Baltich ◽  
H Krinsky ◽  
...  
Keyword(s):  
Cascade Testing

Non-gynecologic cancers in pregnant women

2018 ◽  
Vol 16 (2) ◽  
pp. 126-136
Author(s):  
Aleksandra Stupak ◽  
◽  
Anna Kwaśniewska ◽  
Keyword(s):  
Pregnant Women ◽  
Gynecologic Cancers

Serum HE4 Level as a Biomarker to Predict the Recurrence of Gynecologic Cancers

2017 ◽  
Vol 18 (10) ◽  
Author(s):  
Jinping Li ◽  
Haibin Chen ◽  
John R. Curcuru ◽  
Sheena Patel ◽  
Taylor O. Johns ◽  
...  
Keyword(s):  
Gynecologic Cancers

scholarly journals Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program

2021 ◽  
Vol 11 (6) ◽  
pp. 543
Author(s):  
Anna DiNucci ◽  
Nora B. Henrikson ◽  
M. Cabell Jonas ◽  
Sundeep Basra ◽  
Paula Blasi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Screening Program ◽  
Qualitative Interviews ◽  
Care Providers ◽  
Genetic Privacy ◽  
Program Outcomes ◽  
Cascade Testing ◽  
Program Costs

Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. “Traceback” cascade testing —outreach to potential probands and relatives—is a possible solution. This paper outlines a funded study (U01 CA240747-01A1) seeking to determine a Traceback program’s feasibility, acceptability, effectiveness, and costs. This is a multisite prospective observational feasibility study across three integrated health systems. Informed by the Conceptual Model for Implementation Research, we will outline, implement, and evaluate the outcomes of an OVCA Traceback program. We will use standard legal research methodology to review genetic privacy statutes; engage key stakeholders in qualitative interviews to design communication strategies; employ descriptive statistics and regression analyses to evaluate the site differences in genetic testing and the OVCA Traceback testing; and assess program outcomes at the proband, family member, provider, system, and population levels. This study aims to determine a Traceback program’s feasibility and acceptability in a real-world context. It will account for the myriad factors affecting implementation, including legal issues, organizational- and individual-level barriers and facilitators, communication issues, and program costs. Project results will inform how health care providers and systems can develop effective, practical, and sustainable Traceback programs.

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