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

Sep 22, 2026

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Germline pathogenic variants in BAP1 are linked to BAP1 tumor predisposition syndrome (BAP1-TPDS) and increased risk for multiple cancers and preneoplastic lesions. A survey assessed patient knowledge of BAP1-TPDS, patient-reported sharing of genetic test results and diagnoses with family, and adherence to current management guidance. Participants with BAP1 germline pathogenic/likely pathogenic variants in a research registry at The Ohio State University completed a modified KnowGene knowledge scale (n=42; 55% response). Results showed strong overall knowledge and frequent family communication, with many completing recommended surveillance; patient-reported outcomes support identifying needs for education, resources, or support.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages11

Reading Time28 min

AccessFree to download

Introduction

Risk-management guidelines for BAP1-TPDS

Patient-reported outcomes and study rationale

Materials and methods

Study design

Familial Cancer (2026) 25:28 [https://doi.org/10.1007/s10689-026-00541-8](https://doi.org/10.1007/s10689-026-00541-8) ORIGINAL ARTICLE Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome Kelley Godwin1 · Joseph McElroy2 · Leigha Senter1 · Lindsey Byrne1 · Mohamed H. Abdel-Rahman1,3 Received: 9 December 2025 / Accepted: 22 February 2026 © The Author(s) 2026 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. Keywords BAP1 · BAP1-TPDS · Hereditary · Neoplastic syndromes · Patient-reported outcomes · Health knowledge 􀀍 Lindsey Byrne [lindsey.byrne@osumc.edu](lindsey.byrne@osumc.edu) 􀀍 Mohamed H. Abdel-Rahman [mohamed.abdel-rahman@osumc.edu](mohamed.abdel-rahman@osumc.edu) Kelley Godwin [kelley.godwin@snhhs.org](kelley.godwin@snhhs.org) Joseph McElroy [joseph.mcelroy@osumc.edu](joseph.mcelroy@osumc.edu) Leigha Senter [leigha.senter-jamieson@osumc.edu](leigha.senter-jamieson@osumc.edu) 1 Division of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA 2 Department of Biomedical Informatics, Center for Biostatistics, College of Medicine, The Ohio State University, Columbus, OH, USA 3 Department of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, OH, USA Introduction Germline pathogenic variants in the BAP1 (BRCA-Associated Protein 1) gene are associated with BAP1 tumor predisposition syndrome (BAP1-TPDS) and are associated with an increased risk for the development of four main cancers: uveal melanoma (UM), cutaneous melanoma (CM), malignant mesothelioma (MMe), and renal cell carcinoma (RCC) [1–3] . BAP1-TPDS can also be associated with preneoplastic melanocytic tumors, referred to as BAP1-inactivated melanocytic tumors (BIMTs) [4] . There is emerging evidence for associations with basal cell carcinoma (BCC), meningioma, cholangiocarcinoma, and hepatocellular carcinoma [1, 5–12] . Since BAP1-TPDS is a more recently described hereditary cancer syndrome, phenotypic associations continue to evolve. There are guidelines for risk management for RCCin those with germline pathogenic or likely pathogenic (P/LPV) variants in BAP1 published by the National 1 3 Comprehensive Cancer Network® (NCCN®) [13] . Since 2020, it has been recommended that those with BAP1-TPDS obtain an abdominal MRI or CT (MRI preferred), obtained with and without IV contrast, every 2 years starting at age 30 or 10 years earlier than the earliest age of diagnosis in the family

FAQs

What did the survey evaluate in BAP1-TPDS patients?

It assessed patient knowledge of BAP1-TPDS, how patients reported sharing genetic test results and diagnoses with family members, and how well they followed recommended cancer surveillance guidelines.

Who participated in the study?

Participants were individuals with a germline pathogenic/likely pathogenic variant in BAP1 who were enrolled in a research registry at The Ohio State University.

What key findings were reported about knowledge, communication, and surveillance?

Most respondents demonstrated substantial knowledge of the syndrome phenotype, reported sharing their genetic result or diagnosis with at least one family member (often first-degree relatives), and many reported undergoing some recommended surveillance.

Sep 22, 2026

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