dbBRCA-Macau v1.0

Breast cancer is the most common cancer in women. About 10-20% cases of breast cancer are caused by hereditary germline mutations in functionally important genes, among which BRCA1 and BRCA2 are the most significant ones. Mutations in these two genes cause genetic instability, and increase the risk of developing breast cancer and other types of cancer. Recent studies demonstrate that the mutation in BRCA1 and BRCA2 is highly ethnic-specific. Macau, a former Portugal colony, is a specific administrative region in China. Macau has a population of about 650 000 in its land of 30 km2, 90% of Macau residents are ethnic Chinese predominated by the Cantonese with distinct genetic, linguistic and cultural characters, and breast cancer is the number one cancer type in Macanese women. With its moderate population size, ethnicity and wealthy economy, Macau has the potential to eradicate BRCA mutation-caused cancers at the population level. We tested BRCA1 and BRCA2 genes in 6,314 Macau individuals or 1% of its population to collect BRCA variation data. We determined the prevalence of 0.29%, and estimated the existence around 1,853 BRCA1 and BRCA2 pathogenic mutation carriers in the Macau population. The BRCA data from our study should be valuable as a resource for prevention and treatment of BRCA mutation-related cancer in Macau, southern Chinese and neighboring populations.