nstd165 (Bhaskaran et al. 2019)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- Khyati Chandratre
- Submitter URL:
- https://dbbrca-chinese.fhs.um.edu.mo/index.php
- Description:
- Pathogenic germline mutations in BRCA1 and BRCA2 disrupt their functions and lead to genome instability. BRCA mutations have been extensively screened in Caucasian populations; however, recent studies suggest BRCA mutations can be ethnic-specific, raising the question whether an ethnicity-based BRCA mutation information system needs to be developed for ethnic populations. In this study, we used Chinese population as a model to test ethnicity-specific BRCA mutations. We performed multi-layered analyses to determine the similarities and differences of BRCA variation between Chinese and non-Chinese ethnic populations and observed substantial differences, indicating that the current Caucasian population-based BRCA data is not adequate to represent the BRCA status in non-Caucasian populations. See Variant Summary counts for nstd165 in dbVar Variant Summary.
- Publication(s):
- Bhaskaran et al. 2019