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<p>Germline pathogenic variants in <i>BAP1</i> are associated with <i>BAP1</i> tumor predisposition syndrome (<i>BAP1</i>-TPDS), and an increased risk for different cancers and preneoplastic lesions. This study assessed the degrees of patient knowledge of <i>BAP1</i>-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 <i>BAP1</i> who are enrolled in a research registry at The Ohio State University. Knowledge about <i>BAP1</i>-TPDS was assessed utilizing a modified scale (KnowGene). Participants were asked about communication surrounding <i>BAP1</i>-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 <i>BAP1</i>-TPDS. In conclusion, <i>BAP1</i>-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 <i>BAP1</i>-TPDS subjects is crucial for understanding their need for further education, resources, or support.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月17日

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  • Kelley Godwin,
  • Joseph McElroy,
  • Leigha Senter,
  • Lindsey Byrne,
  • Mohamed H. Abdel-Rahman

摘要

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.