Abstract

TETRA-PRIMER ARMS-PCR DETECTED A MISSENSE MUTATION OF BRCA1 AND BRCA2 IN BREAST CANCER PATIENTS IN JEDDAH CONTROL STUDY

Sabah Linjawi*, Zuhoor Al-Gaithy, Norah Hamdi, Samar Sindi, Ayman Linjawi

Abstract

Objective: Breast cancer is one of the major severe malignancies that affect women and occurs in either sporadic or hereditary form. The aim of this research was to study the distribution of the alleles of BRCA1 and BRCA2 genes in a sporadic breast cancer population in Jeddah in KSA. Method: The study included 128 participants (64 control, 64 patients). For this purpose Tetra ARMS-PCR primers technique for the detection of the missense mutation, (c.4132G>A) in exon 11 for BRCA1 and (c.1385A>G) in exon 10 for BRCA2 was employed. Result: The results of the study indicated that (100%) of the genotype was normal allele (GG) for BRCA1, (98.44%) of the genotype was normal allele (AA) for BRCA2 while the control had (1.56%) for hetero allele (GA). Conclusion: The study demonstrated that tetra ARMS-PCR method was an efficient detection for genotyping of (BRCA1 c.4132G>A) and (BRCA2 c.1385A>). Currently, we believe that, no sufficient proof to conclude that BRCA1 and BRCA2 mutation happens at a lower frequency in KSA, compared to the rest of the world. Further genetics and molecular studies are recommended especially those that include larger samples of breast cancer.

Keywords: BRCA1, BRCA2, T-ARMS-PCR, breast cancer