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Title: Functional characterisation guides classification of novel BAP1 germline variants
Authors: Hong, Jing Han
Chong, Siao Ting
Lee, Po-Hsien
Tan, Jing
Heng, Hong Lee
Nur Diana Ishak
Chan, Sock Hoai
Teh, Bin Tean
Ngeow, Joanne
Keywords: Science::Medicine
Issue Date: 2020
Source: Hong, J. H., Chong, S. T., Lee, P.-H., Tan, J., Heng, H. L., Nur Diana Ishak, . . . Ngeow, J. (2020). Functional characterisation guides classification of novel BAP1 germline variants. npj Genomic Medicine, 5(1), 50-. doi:10.1038/s41525-020-00157-6
Project: MOH-000232
Journal: npj Genomic Medicine
Abstract: We have identified six patients harbouring distinct germline BAP1 mutations. In this study, we functionally characterise known BAP1 pathogenic and likely benign germline variants out of these six patients to aid in the evaluation and classification of unknown BAP1 germline variants. We found that pathogenic germline variants tend to encode truncated proteins, show diminished expression of epithelial-mesenchymal transition (EMT) markers, are localised in the cytosol and have reduced deubiquitinase capabilities. We show that these functional assays are useful for BAP1 variant curation and may be added in the American College of Medical Genetics and Genomics (ACMG) criteria for BAP1 variant classification. This will allow clinicians to distinguish between BAP1 pathogenic and likely benign variants reliably and may aid to quickly benchmark newly identified BAP1 germline variants. Classification of novel BAP1 germline variants allows clinicians to inform predisposed patients and relevant family members regarding potential cancer risks, with appropriate clinical interventions implemented if required.
ISSN: 2056-7944
DOI: 10.1038/s41525-020-00157-6
Rights: © 2020 The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing,adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
Fulltext Permission: open
Fulltext Availability: With Fulltext
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