Abstract:
Objective To screen BRCA1 gene mutation in sporadic breast cancer. Methods Mutational screening on f ragment s of exon 2, 3, 5, 8, 10, 12, 13, 14, 15, 16, 17, 18, 19, 20 and 21 of BRCA1 gene in 65 cases of sporadic breast cancer was performed by PCR-SSCP( single-strand conformation polymorphism analysis), and alterations were confirmed by DNA sequencing. Results A total of 4 single nucleotide changes in BRCA1 were identified, including 1 missense mutations in exon 5 (287 A > T), 1 missense mutation in exon 12 (4 285 G> A), 1 missense mutations in exon 17 (5 115 T > C), and 1 missense mutations in exon 18 (5 206 T > A ), the mutation rate was 6. 2 %(4/ 65) . Conclusion Mutations in BRCA1 is closely related to sporadic breast cancer.