# Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome

## TL;DR

This study surveyed patients with BAP1 tumor predisposition syndrome to assess their knowledge, communication with family, and adherence to cancer surveillance guidelines.

## Contribution

The study provides patient-reported insights into knowledge, communication, and management practices in BAP1 tumor predisposition syndrome.

## Key findings

- Most participants (60%) had strong knowledge of BAP1-TPDS, and 79% had at least moderate knowledge.
- All participants shared their diagnosis with at least one family member, mostly first-degree relatives.
- Most participants followed some recommended cancer surveillance measures for BAP1-TPDS.

## Abstract

Germline pathogenic variants in BAP1 are associated with BAP1 tumor predisposition syndrome (BAP1-TPDS), and an increased risk for different cancers and preneoplastic lesions. This study assessed the degrees of patient knowledge of BAP1-TPDS, patient-reported sharing of their genetic test results and diagnosis, and the degree of compliance with current management guidelines. A survey was sent to individuals with a germline pathogenic/likely pathogenic variant in BAP1 who are enrolled in a research registry at The Ohio State University. Knowledge about BAP1-TPDS was assessed utilizing a modified scale (KnowGene). Participants were asked about communication surrounding BAP1-TPDS with family members, and their current cancer surveillance. Forty-two (55%) subjects completed the survey with 25 (60%) having strong 80% knowledge of the syndrome, and 33 (79%) having at least 60% knowledge. All participants reported sharing their genetic result or diagnosis with at least one family member, primarily their first-degree relatives. Most of the cohort had undergone some recommended surveillance for BAP1-TPDS. In conclusion, BAP1-TPDS subjects are knowledgeable about the syndrome phenotype, highly communicative about their diagnosis with family members, and follow some recommended surveillance. Capturing patient-reported outcomes of BAP1-TPDS subjects is crucial for understanding their need for further education, resources, or support.

The online version contains supplementary material available at 10.1007/s10689-026-00541-8.