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Article

Functional assay for assessment of pathogenicity of BAP1 variants.

Human molecular genetics - 18 Feb 2024

Repo Pauliina E, Backlund Michael P, Kivelä Tero T, Turunen Joni A

Abstract excerpt

BACKGROUND: Pathogenic germline variants in BRCA1-Associated Protein 1 (BAP1) cause BAP1 tumor predisposition syndrome (BAP1-TPDS). Carriers run especially a risk of uveal (UM) and cutaneous melanoma, malignant mesothelioma, and clear cell renal carcinoma. Approximately half of increasingly reported BAP1 variants lack accurate classification. Correct interpretation of pathogenicity can improve prognosis of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37956408
DOI: 10.1093/hmg/ddad193
PMCID: PMC10877462

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