dbBRCA-Chinese v2.0

Breast cancer is the most common cancer and one of the leading causes of the cancer-related deaths in women. About 10-20% cases of breast cancer are caused by the hereditary germline mutations in functionally important genes, among which BRCA1 and BRCA2 are the most significant ones. BRCA1 and BRCA2 play important roles in maintaining genome stability. Mutations in these two genes disrupt their function, cause genetic instability, and increase the risk of developing breast cancer and several other types of cancer. Studies have identified large number of mutations in BRCA1 and BRCA2, several BRCA mutation reference databases have been developed and used globally for clinical diagnosis, treatment, and prevention of BRCA mutation caused cancer.

Recent studies indicate that mutations in BRCA1 and BRCA2 can be ethnic-specific among diverse human populations. The current BRCA mutation data are derived largely from Caucasians of European and North American population. As ethnic-specific mutations are not covered in these data, relying upon these data as the only reference is not sufficient to reach comprehensive identification of the BRCA mutation carriers with non-Caucasians genetic background. Thus, an imperative need is to develop ethnic-specific BRCA mutation databases for non-Caucasian populations.

China is the most populated country in the world with its population size of nearly 1.4 billion. In China, over 0.26 million breast cancer cases are diagnosed with nearly 70,000 mortalities each year. Developing effective strategies for prevention and early diagnosis of breast cancer are therefore urgently needed to control this disease in Chinese population. There could be 1 to 2 million BRCA mutation carriers estimated in Chinese population although the actual number remains unclear. The prevalence and spectrum of BRCA mutations in Chinese population has been shown to differ substantially from non-Chinese populations. Though extensively datamining, standardization, annotation, and clinical impact classification, we have developed this Chinese-specific BRCA database, dbBRCA-Chinese. The database is the first large-scale, open-access Chinese BRCA database covering nearly all BRCA variation information currently known in Chinese population, and is also the largest BRCA databases from a single, non-Caucasian country in the world. The database v1.0 contains 1,088 BRCA variants including 557 BRCA1 variants and 531 BRCA2 variants exclusively derived from over 30,000 Chinese individuals reported from 1999 to 2017. The updated database v2.0 contains 1,523 BRCA variants including 758 BRCA1 variants and 765 BRCA2 variants derived from 43,197 Chinese cancer patients reported from 1999 to March, 2019. We will periodically update the database to reflect the latest progresses.

We hope that the establishment of the dbBRCA-Chinese database will provide a useful resource to promote BRCA-related cancer study in Chinese population, and promote national and international collaboration in this field.