Lack of Association of BRCA1 and BRCA2 Variants with Breast Cancer in an Ethnic Population of Saudi Arabia, an Emerging High-Risk Area


Incidence of breast cancer shows geographical variation, even within areas of ethnic homogeneity. SaudiArabia has witnessed an increase in occurrence of breast cancer in its unexplored ethnic populations over thepast few years. We aimed at determining whether any association exists between single nucleotide polymorphismsin breast cancer associated gene 1 (BRCA1) and breast cancer associated gene 2 (BRCA2) and the risk of breastcancer. TaqMan based Real Time Polymerase chain reaction genotyping assays were used to determine thefrequency of single nucleotide polymorphisms in BRCA1 (rs799917) and BRCA2 (rs144848) in a group of 100breast cancer patients and unaffected age matched controls of Saudi Arabian origin. The present data revealedthat neither BRCA1 nor the BRCA2 studied variant show any significant association with the disease. This studyfailed to find any role of the concerned variants in breast cancer either as risk or as prognostic factors. The smallnumber of patients registered was one of the limitations of this study. In summary, comparison of mutation profilewith other ethnic populations and regions reflected both differences and similarities indicating co-exposure toa unique set of risk factors. The differences could be due to exposure to particular environmental carcinogens;different lifestyle, reproductive pattern; dietary or cultural practices of Saudi Arabian women that need furtherinvestigations.