Functional characterisation guides classification of novel BAP1 germline variants

• Main 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
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Medicine; Clinical Genetics; Genetics Research
• Online Access: https://hdl.handle.net/10356/146677
• Institution: Nanyang Technological University

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 pa...