Investigation into the origins of an ancient BRCA1 founder mutation identified among Chinese families in Singapore

• Main Authors: Shaw, Tarryn, Chan, Sock Hoai, Teo, Jing Xian, Chong, Siao Ting, Li, Shao-Tzu, Courtney, Eliza, Ishak, Diana, Sankar, Haresh, Ang, Zoe Li Ting, Chiang, Jianbang, Loh, Marie, Zhou, Li, Lee, Soo Chin, Yeh, Hui-Yuan, Kolinjivadi, Arun Mouli, Lim, Weng Khong, Ngeow, Joanne
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Medicine; Asian; Hereditary
• Online Access: https://hdl.handle.net/10356/154510
• Institution: Nanyang Technological University

Identification of ancestry-specific pathogenic variants is imperative for diagnostic, treatment, management and prevention strategies, and to understand penetrance/modifiers on risk. Our study aimed to determine the clinical significance of a recurrent BRCA1 c.442-22_442-13del variant of unknown sig...