Article

Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant

2025-11-10

Abstract excerpt

<title>Abstract</title> <p> <italic>BAP1</italic> tumour predisposition syndrome ( <italic>BAP1</italic> -TPDS) is a hereditary cancer syndrome caused by heterozygous pathogenic germline variants in <italic>BAP1</italic> . <italic>BAP1</italic> -TPDS is associated with an increased risk for various malignant tumours, the core of which is uveal and cutaneous melanoma, malignant mesothelioma, and renal cell...

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Literature Corpus work: 8552fffb-f51a-56f3-9c1a-629c853f585f
DOI: 10.21203/rs.3.rs-7942438/v1

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