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Article

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.

European journal of human genetics : EJHG - 1 Nov 2023

Lalloo Fiona, Kulkarni Anju, Chau Cindy, Nielsen Maartje, Sheaff Michael, Steele Jeremy, van Doorn Remco, Wadt Karin, Hamill Monica, Torr Beth, Tischkowitz Marc, Hanson Helen

Abstract excerpt

BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma and specific non-malignant neoplasms of the skin, as part of the autosomal dominant BAP1-tumour predisposition syndrome. The overall...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37607989
DOI: 10.1038/s41431-023-01448-z
PMCID: PMC10620132

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