Detection of brca1 and 2 genes mutations among women with breast cancer attending radio and isotope center in Khartoum, Sudan

الملخص EN

This study was conducted to estimate the frequency of Brca1 and Brca2 gene mutations in Sudanese female patients with breast cancer.

One hundred patients (mean age 54.3 years) with breast cancer (BC) attending radio and isotopes center in Khartoum (RICK) together with 50 apparently healthy individuals (mean age 54 years), used as controls, were enrolled for this study.

Among the patients, 63 have positive family history (1st and 2nd degree relatives) of BC.

Brca1 & Brca2 genes were determined using specific primers and multiplied by PCR.

The mutations of the 2 genes were detected on 2 exons (8 and 13) on Brca1 and exon 9 on Brca2 using single strand conformation polymorphism (SSCP) assay.

The results showed no obvious mutation detected on both genes as indicated by silver polyacrylamide gel elecrophoresis.

This study concluded that breast cancer on these patients might be predisposed by mutations on other genes or other exon on Brca1/2 and/or other risk factors.