Abstract
Objective: To study the mutation of BRCA1 gene in Chinese breast cancer families.Methods: Fifteen families were selected, involving 41 members, consisting of 23 breast cancer patients. Using polymerase chain reaction and single stranded conformation polymorphism (PCR-SSCP), and subsequent DNA sequencing, the mutation of BRCA1 genes were analyzed.Results: Four mutations were found in all families, and the proportion of mutation was 26.7% (4/15) in breast cancer families. One of the 4 mutations was 2228 insC, resulting in chain termination at codon 711. The remaining 3 mutations were 1884A→T and 3232A→G, resulting in single amino acid change respectively.Conclusion: BRCA1 is a breast cancer susceptibility gene. The relatively low proportion and frequency of BRCA1 mutations in our study hints additional BRCA genes existed.
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This study was support by Nature Science Foundation of Jiangsu Province Science Committee (No. BK97168).
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Zhengyan, W., Linlin, Z. & Ping, F. Mutation analysis in the BRCA1 gene in Chinese breast cancer families. Chin. -Ger. J. Clin. Oncol. 2, 153–155 (2003). https://doi.org/10.1007/BF02842288
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DOI: https://doi.org/10.1007/BF02842288