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Clinical phenotypes of uveal melanoma in patients with germline pathogenic/likely pathogenic <i>BAP1</i> variants.

medRxiv : the preprint server for health sciences·2026
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Impact of Multigene Panel Testing in High-Risk Uveal Melanoma Patients.

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Updated: Aug 17, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.

Lindsey Byrne1, Cana Ingalls2, Aliya Ansari2

  • 1Division of Human Genetics and James Comprehensive Cancer Center, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Lindsey.byrne@osumc.edu.

Familial Cancer
|December 13, 2022
PubMed
Summary

Germline BAP1 pathogenic variants increase cancer risk. This study reports a family with two distinct BAP1 variants, highlighting the need for comprehensive genetic testing in hereditary cancer predisposition syndromes.

Keywords:
BAP1Case reportFamilial cancerPanel cascade genetic testing

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Area of Science:

  • Oncology
  • Genetics
  • Cancer Predisposition Syndromes

Background:

  • Germline pathogenic variants in the BAP1 tumor suppressor gene are linked to hereditary cancer predisposition syndromes.
  • These variants increase susceptibility to various cancers, including uveal melanoma, mesothelioma, and renal cell carcinoma.
  • While rare in the general population, BAP1 variants are more prevalent in cancer patients.

Observation:

  • A proband presented with multiple independent uveal melanomas and a history of squamous cell carcinoma, renal cell carcinoma, and family cancer history.
  • Initial genetic testing identified a known American founder BAP1 pathogenic variant (c.1717delC, pL573Wfs*3) in the proband.
  • A nephew, initially testing negative for the familial variant, was found to have a different BAP1 pathogenic variant (c.605G>A, p. Trp202*) through large cancer panel testing.

Findings:

  • This is the first reported family with two unique germline BAP1 pathogenic variants.
  • The probability of two distinct BAP1 variants occurring in a cancer-affected family is extremely low (5.9 × 10⁻⁷).
  • The second BAP1 variant identified in the nephew was not present in the proband or his brother.

Implications:

  • This case underscores the importance of comprehensive genetic testing strategies for hereditary cancer syndromes.
  • Large cancer panel testing is recommended for at-risk family members, especially when a single familial variant does not explain the full spectrum of cancers.
  • Relying solely on single-site testing for a known familial variant may lead to missed diagnoses of other pathogenic variants within the same gene.