Please use this identifier to cite or link to this item:
Title: Functional characterisation guides classification of novel BAP1 germline variants
Authors: Hong, J.H.
Chong, S.T.
Lee, P.-H. 
Tan, J.
Heng, H.L.
Ishak, N.D.B.
Chan, S.H.
Teh, B.T. 
Ngeow, J. 
Issue Date: 2020
Publisher: Nature Research
Citation: Hong, J.H., Chong, S.T., Lee, P.-H., Tan, J., Heng, H.L., Ishak, N.D.B., Chan, S.H., Teh, B.T., Ngeow, J. (2020). Functional characterisation guides classification of novel BAP1 germline variants. npj Genomic Medicine 5 (1) : 50. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
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. © 2020, The Author(s).
Source Title: npj Genomic Medicine
ISSN: 20567944
DOI: 10.1038/s41525-020-00157-6
Rights: Attribution 4.0 International
Appears in Collections:Elements
Staff Publications

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
10_1038_s41525_020_00157_6.pdf3.2 MBAdobe PDF



Google ScholarTM



This item is licensed under a Creative Commons License Creative Commons