Mutation detection in exons 3, 10, 12 of BRCA1 gene in 30 patients affected with familial breast cancer

Abstract

Breast cancer is one of the most common causes of death due to cancer in women. More than half of hereditary breast/ovarian cancer families could be attributed to mutation in breast cancer susceptibility gene BRCA1. This study was performed on blood samples of 30 women who affected with familial breast cancer. Non-radioactive PCR-SSCP technique was utilized mutation screening in exons 3, 10, 12 of BRCA1 gene. Two shifts in exon 3 and also two in exon 12 was detected, but no shift in exon 10 was found. Due to low number of recognized mutations, the statistical analysis didn’t show a meaningful correlation between mutations and pathological characteristics. Results from this study showed that there was a low possibility of germline mutation in these three exons. Low rate of mutation in this report was concordance with the others.

Keywords

• Breast cancer
• Mutation
• BRCA1
• PCR-SSCP