Liquid Biopsy for Cancer Screening in Li-Fraumeni Syndrome: Interest in Clinical Trial and Reported Barriers to Standard-of-Care Screening

Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome associated with significant lifelong risk of cancer, and individuals with LFS undergo recommended screening protocols that are heavily dependent upon radiologic imaging. Recently, liquid biopsy has emerged as a potential new screening technique for LFS. In this study, we conducted a survey of adults with LFS and caregivers of children with LFS, to determine interest in a clinical trial evaluating liquid biopsy as an addition to standard of care cancer screening. We also assessed barriers to receiving recommended screening, and consequent financial toxicity. A total of 81 adults with LFS and 28 parents/guardians ("caregivers") of children with LFS responded to the survey. Of these, the majority (93%) were interested in the addition of liquid biopsy and were willing to have additional screening as frequently as every 3 months. While most respondents were able to complete standard of care cancer screening as planned, over a third reported financial barriers to completion of screening. Other reported barriers included scheduling, transportation, and stress around screening results. Additionally, approximately one fifth of adults and one fourth of parents/caregivers reported financial toxicity, with the most prevalent being food insecurity. These results provide data for feasibility and high participant interest in a clinical trial of liquid biopsy for cancer screening in LFS. Additionally, any clinical trial will require planning around barriers to existing screening protocols.

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Publication Details

Journal
Cancer Prevention Research
Published
2026-04-15
DOI
https://doi.org/10.1158/1940-6207.capr-25-0433
Primary Topic
Cancer-related Molecular Pathways
Type
article
Field-Weighted Citation Impact
0.00

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article

Liquid Biopsy for Cancer Screening in Li-Fraumeni Syndrome: Interest in Clinical Trial and Reported Barriers to Standard-of-Care Screening

Brian D. Crompton, Luke Devon Maese, Kristin Zelley, Payal P. Khincha et al.
Cancer Prevention Research
Cancer-related Molecular Pathways
article

Liquid Biopsy for Cancer Screening in Li-Fraumeni Syndrome: Interest in Clinical Trial and Reported Barriers to Standard-of-Care Screening

Brian D. Crompton, Luke Devon Maese, Kristin Zelley, Payal P. Khincha, Lisa A. Schwartz, Kara N. Maxwell, Suzanne P. MacFarland, Sara King‐Dowling, Victoria E. Goodman, Kris Ann P. Schultz
article en

Abstract

Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome associated with significant lifelong risk of cancer, and individuals with LFS undergo recommended screening protocols that are heavily dependent upon radiologic imaging. Recently, liquid biopsy has emerged as a potential new screening technique for LFS. In this study, we conducted a survey of adults with LFS and caregivers of children with LFS, to determine interest in a clinical trial evaluating liquid biopsy as an addition to standard of care cancer screening. We also assessed barriers to receiving recommended screening, and consequent financial toxicity. A total of 81 adults with LFS and 28 parents/guardians ("caregivers") of children with LFS responded to the survey. Of these, the majority (93%) were interested in the addition of liquid biopsy and were willing to have additional screening as frequently as every 3 months. While most respondents were able to complete standard of care cancer screening as planned, over a third reported financial barriers to completion of screening. Other reported barriers included scheduling, transportation, and stress around screening results. Additionally, approximately one fifth of adults and one fourth of parents/caregivers reported financial toxicity, with the most prevalent being food insecurity. These results provide data for feasibility and high participant interest in a clinical trial of liquid biopsy for cancer screening in LFS. Additionally, any clinical trial will require planning around barriers to existing screening protocols.

Cancer Prevention Research
Broad Institute (US), Boston University (US), Children's Hospital of Philadelphia (US), Huntsman Cancer Institute (US), University of Massachusetts Boston (US), Center for Cancer and Blood Disorders (US), National Cancer Institute (US), Cancer Genetics (United States) (US), University of Pennsylvania (US)
Intramural Research Program
Zero hunger
Openalex Percentile: Top 27%
Cancer-related Molecular Pathways
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