Analysis of mutation sites of BRCA1 gene in Chinese patients with breast cancer / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the mutation sites of exons 2, 20, 11A and 11B in Chinese patients with breast cancer.</p><p><b>METHODS</b>A total of 86 patients with breast cancer without blood relationship were randomly selected. Polymerase chain reaction (PCR) and double-strand DNA direct sequencing were applied.</p><p><b>RESULTS</b>No mutations, especially deletions were found in exons 2, 20 and 11 with carefully checking the sequencing results, although they were reported frequently in Europe populations with breast cancer. We found one polymorphism in exon 11, with high frequency, and in the test of chi-square, the frequencies of two alleles had no significant difference between the patients and controls.</p><p><b>CONCLUSION</b>The above results suggest this SNP may not be associated with the breast cancer in Chinese population, and indicates that the gene sequence of what we have studied doesn't account much for occurrence of the breast cancer in the population of China.</p>