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Article

Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series.

European journal of human genetics : EJHG - 1 Aug 2024

Miranda Joao, Dave Priya, Kemel Yelena, Sheikh Rania, Zong Grace, Calderon Lina Posada, Will Marie, Liu Ying L, Walsh Michael, Stadler Zsofia K, Offit Kenneth, Latham Alicia, Mandelker Diana, Chen Ying-Bei, Andrieu Pamela Causa, Carlo Maria Isabel

Abstract excerpt

BAP1-Tumor Predisposition Syndrome (TPDS) is caused by germline variants in BAP1 and predisposes to solid tumors. After observation of a radiologically malignant-appearing splenic mass with benign pathology in a patient with BAP1-TPDS, we sought to retrospectively characterize splenic lesions in individuals with BAP1-TPDS seen at a comprehensive cancer center. A dedicated radiology review for splenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38824259
DOI: 10.1038/s41431-024-01623-w
PMCID: PMC11291683

Genes

BAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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