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OBJECTIVE To shed light on the relationship between BRCA1 gene and breast cancer in Chinese Han women. METHODS Four microsatellites DNA (D17S855, D17S579, D17S1327 and THRA1) within the BRCA1 gene were used as polymorphic markers. A study of loss of heterozygosity(LOH) and microsatellite instability(MSI) at the above- mentioned 4 microsatellites of 50 breast cancer patients was conducted by using PCR -PAUGE-DNA silver staining (polymerase chain reaction-polyacrylamide urea gel electrophoresis) method. RESULTS Twenty-nine or 58% of the informative cases showed LOH; 35.71%, 15. 38%, 18.18%, and 26.19% of the informative cases showed positive LOH at the D17S855, D17S579, D17S1327 and THRA1 loci respectively. The rate of MSI was 46%, and the rates of MSI at the four loci were 16%, 18%, 18% and 12% respectively. Further study on the associations between the phenomena of LOH and MSI and different clinical stages revealed that MSI was an early event in mammary tumorigenesis while LOH occurred at a later stage. CONCLUSIONS All of these suggest that breast cancer in Chinese be somehow linked to BRCA1.
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