The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations
โ Scribed by S. Mazoyer
- Book ID
- 117853345
- Publisher
- American Society of Human Genetics
- Year
- 2000
- Tongue
- English
- Weight
- 128 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302974
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Previous mutational analysis for BRCA gene mutations in sporadic ovarian cancer occurring in Chinese patients in Hong Kong identified six germline BRCA1 mutations and one germline BRCA2 mutation, six of which were novel (Khoo et al., 2000). Knowledge of BRCA gene mutations in the Chinese population
## Abstract Hereditary breast cancer constitutes 5โ10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 C-terminal region (BRCT) has a functional duplicated globular domain, which help