title: Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.
abstract: Incidence of breast cancer shows geographical variation, even within areas of ethnic homogeneity. Saudi Arabia has witnessed an increase in occurrence of breast cancer in its unexplored ethnic populations over the past few years. We aimed at determining whether any association exists between single nucleotide polymorphisms in breast cancer associated gene 1 (BRCA1) and breast cancer associated gene 2 (BRCA2) and the risk of breast cancer. TaqMan based Real Time Polymerase chain reaction genotyping assays were used to determine the frequency of single nucleotide polymorphisms in BRCA1 (rs799917) and BRCA2 (rs144848) in a group of 100 breast cancer patients and unaffected age matched controls of Saudi Arabian origin. The present data revealed that neither BRCA1 nor the BRCA2 studied variant show any significant association with the disease. This study failed to find any role of the concerned variants in breast cancer either as risk or as prognostic factors. The small number of patients registered was one of the limitations of this study. In summary, comparison of mutation profile with other ethnic populations and regions reflected both differences and similarities indicating co-exposure to a 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 further investigations.
authors.affiliation: Molecular Cancer Biology Research Lab (MCBRL), Depatment of Food Science and Nutrition, King Saud University, Riyadh, Saudi Arabia E-mail : alialshatwi@gmail.com.
authors.forename: Tarique Noorul
authors.initials: TN
authors.lastname: Hasan
authors.forename: Gowhar
authors.initials: G
authors.lastname: Shafi
authors.forename: Naveed Ahmed
authors.initials: NA
authors.lastname: Syed
authors.forename: Mohammed Abdullah
authors.initials: MA
authors.lastname: Alsaif
authors.forename: Abdulaziz Abdullah
authors.initials: AA
authors.lastname: Alsaif
authors.forename: Ali Abdullah
authors.initials: AA
authors.lastname: Alshatwi
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012306:Risk; D012307:Risk Factors; D012529:Saudi Arabia
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein