Functional analysis of clinical BARD1 germline variants

• Main Authors: Toh, Ming Ren, Chong, Siao Ting, Chan, Sock Hoai, Low, Chen Ee, Nur Diana Binte Ishak, Lim, Jing Quan, Courtney, Eliza, Ngeow, Joanne
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2020
• Subjects: Science::Medicine; Germline Mutation; BARD1 Gene
• Online Access: https://hdl.handle.net/10356/144179
• Institution: Nanyang Technological University

Germline pathogenic variants in BRCA1/2 account for one-third of familial breast cancers. The majority of BRCA1 function requires heterodimerization with BARD1. In contrast to BRCA1, BARD1 is a low-penetrance gene with an unclear clinical relevance, partly because of limited functional evidence. Usi...