Mutations in BRCA1 and BRCA2 in sporadic cases with breast cancer in eastern China / 中国癌症杂志

ABSTRACT

Purpose:To estimate prevalence of BRCA1 and BRCA2 mutations among Chinese patients with breast cancer in eastern China. Methods:Frozen tumor tissues were obtained from 79 female patients, and three exons (2, 11, 22) of BRCA1 and three exons (9, 14, 22) of BRCA2 were examined with 23 pairs of primer, using polymerase chain reaction (PCR) single strand conformational polymorphism (SSCP) sequencing method. Results:It was found that in cDNA of BRCA1, there is a single nucleotide variation of T→C at position of 2430. By the RFLP method, we confirmed that the variation in the general population is a single nucleotide polymorphism. The distribution of T allele and C allele is different between cases and controls, but the difference is not significant. Conclusions:It implied that the mutations of BRCA1 and BRCA2 in breast cancer patients in eastern China is very rare.