Beliefs, Attitudes, and Response to Genetic Testing in SarcomaPatients

NCT ID: NCT06875700

Last Updated: 2025-06-13

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-07-09
• Study Completion Date: 2027-08-31

Brief Summary

Genomic research has shown that a portion of leiomyosarcomas can be attributed to an underlying cancer predisposition syndrome. However, the optimal approach for incorporating germline testing into the care of these patients. This study is assessing the beliefs about the heritability of leiomyosarcoma and other cancer risks, and attitudes towards germline testing among leiomyosarcoma patients.

Detailed Description

This is a descriptive study to explore attitudes to genomics and return of genetic information and examine the cognitive and affective impact of receiving germline genetic information among LMS patients and their family members.The present study will aim to do the following:

• Assess leiomyosarcoma (LMS) patients' beliefs and attitudes about the heritability of LMS and their interest in genetic testing.
• Among LMS patients who undergo genetic testing, evaluate the cognitive, affective, and communication outcomes of genetic testing in LMS patients found to have actionable germline germline pathogenic variants (PVs).
• Evaluate family members' beliefs and attitudes about the heritability of reasons for undergoing genetic testing and responses.

Prior studies of cancer patients have found a strong interest in genetic testing so at-risk relatives will have the opportunity to have increased cancer screening or take risk-reducing measures to prevent cancer. However, the genes most strongly associated with LMS are tumor protein 53 (TP53) gene and Retinoblastoma 1 (Rb1) gene. These genes cause risks for cancers that families may be less familiar with and that have less well-established approaches for screening and prevention.

LMS may not be the most significant cancer risk related to the syndrome associated with the PV identified. The finding of risk for other non-LMS cancers may be unexpected and incongruent with the family's experience or focus on the LMS being treated. Screening recommendations for relatives testing positive for these PV will generally be given cancer screening recommendations targeted towards risks for cancers other than LMS.

Patients beginning or in the midst of cancer treatment may be less able to share and effectively communicate about genetic test results to patients. We need to better understand how patients and family members respond to findings to maximize the clinical benefit of this information and support family communication.

LMS patients will be identified by querying the enterprise data warehouse (EDW) and Huntsman Tumor Registry and prospectively by reviewing clinic and tumor board lists.

Conditions

Leiomyosarcoma

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Study Groups

LMS Probands

LMS Probands are the first person in a family to be known to have a germline predisposition gene mutation in LMS. A cohort of patients with a histologically confirmed leiomyosarcoma diagnosis will be prospectively recruited from two SPORE prospective biomarker studies.

No interventions assigned to this group

Relative of LMS Probands

Relatives to LMS probands will be enrolled in this cohort. Approximately 4 family members per proband will be recruited.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Actionable germline PV detected in the research context
• Living
• No prior germline testing for this PV
• Able to speak and read English
• Mentally competent
• Age 18 or older

Relative of LMS Proband

• 25-50% chance for having inherited the PV
• No prior germline testing for this PV
• Able to speak and read English
• Mentally competent
• Age 18 or older

Exclusion (both cohorts)

• <18 years
• Unable to read or write

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Cancer Institute (NCI)

NIH

Sponsor Role: collaborator

University of New South Wales

UNKNOWN

Sponsor Role: collaborator

University of Michigan

OTHER

Sponsor Role: collaborator

University of Utah

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Huntsman Cancer Institute at the University of Utah

Salt Lake City, Utah, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Gregg Wood

Role: CONTACT

gregg.wood@hci.utah.edu

8016464215

Facility Contacts

Wendy K Kohlmann, MS

Role: primary

wendy.kohlmann@hci.utah.edu

801-587-5556

Other Identifiers

1P50CA272170-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

HCI165523

Identifier Type: -

Identifier Source: org_study_id