dbBRCA-Taiwan v1.0

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.

With a population size of 23.8 million, over 10,000 breast cancer cases are diagnosed with nearly 2,000 mortalities each year in Taiwan. Developing effective strategies for prevention and early diagnosis of breast cancer are therefore urgently needed to control this disease in Taiwanese population. The prevalence of 0.53% BRCA of pathogenic variation in the general Taiwanese population is the highest in Asian populations. One BRCA pathogenic variant carrier in every 189 Taiwanese individuals represents a serious threat for public health in Taiwanese population, justifying the inclusion of BRCA-related cancer diagnosis, treatment, and prevention in the healthcare system in Taiwan. The prevalence and spectrum of BRCA mutations in Taiwanese population has been shown to differ substantially from non-Taiwanese populations. Though extensively datamining, standardization, annotation, and clinical impact classification, we have developed this ethnic-specific BRCA database, dbBRCA-Taiwanese. The database is the first large-scale, open-access Taiwanese BRCA database covering nearly all BRCA variation information currently known in Taiwanese population BRCA data. The database contains 335 BRCA variants including 129 BRCA1 variants and 206 BRCA2 variants exclusively derived from 4,182 Taiwanese individuals reported from 1997 to 2020. We will periodically update the database to reflect the latest progresses.

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