Prevalence of BRCA1/BRCA2 frequent mutations in the Pakistani breast cancer patients.

Objectives: Breast cancer is the most common cause of death in women. 20% of breast cancer cases are due to the variations in the BRCA1/BRCA2 genes. Various variants of BRCA1/2 genes have been reported worldwide, which cause breast cancer by forming truncated proteins. In the current study, we aimed to find out the prevalence of mutations 1294DEL40, E1250X and 5382insC (BRCA1) and 2157DELG (BRCA2) in a case control cohort of Pakistani origin. Study Design: Case Control Study. Setting: Microbiology and Molecular Genetics University of Punjab, Lahore.  Period: December 2017 to June 2018. Material & Methods: Blood samples from 80 female breast cancer patients and 80 healthy females were taken. DNA was isolated from blood by manual method and genotyping was done by PCR-RFLP. Results: We found that for the 2157DELG mutation of the BRCA2 gene, homozygous mutant phenotype is present only in the cases at a frequency of 25% while the BRCA1 gene mutations were less common i.e., the E1250X mutation showed 6.6% prevalence in patients, and the 1294del40 and 5382insC mutations were absent in the current cohort. Conclusion: Despite of sample size limitation, this study provides information about the prevalence of some common mutations. In addition, clinical risk factors were also noted which are essential in risk assessment. We foresee that targeting of specific genetic variants restricted to a particular ethnic group would be more effective in the future therapeutic approaches for the prevention and cure of breast cancer.