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

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

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...

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Bibliographic Details
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: Journal Article
Language:English
Published: 2021
Subjects:
Science::Medicine
Asian
Hereditary
Online Access:https://hdl.handle.net/10356/154510

Internet

https://hdl.handle.net/10356/154510

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