Breast and Ovarian Cancer Risk due to Prevalence ofBRCA1andBRCA2Variants in Pakistani Population: A Pakistani Database Report

Abstract

Introduction. Pakistani population has a very rich anthrogeneological background with waves of migration from neighboring regions. Incidence rates of breast and ovarian cancer in Pakistan are on such a rapid rise that it is necessary to check the contributory factors, genetic and nongenetic. An insight into the prevalence data emphasizes the formulation of a BRCA1 and BRCA2 database for the Pakistani population. Method. In this study conducted by authors, data from diagnosed cases of both sporadic and inherited female breast and ovarian cancer cases was gathered after performing molecular genetic analysis by screening for alterations in the coding sequence of the BRCA gene. The region of interest was analyzed by the aid of various molecular biology tools such as automated DNA sequencer. Bioinformatics software was used to interpret the results, and database was prepared. Results. Mutational screening of the exons in all the samples of our study group did not reveal any pathogenic mutation. These results along with the results of the previous Pakistani studies for both BRCA1 and BRCA2 genes were summed up to prepare a Pakistani database. Percentage involvement of these genes was estimated. Nine percent of these cancers show alterations in BRCA1 gene while 3 percent have shown BRCA2 variants. The remaining 88 percent of breast and ovarian cancers can be attributed to the involvement of other genes.

Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients from North-East India

“…These observations suggest that 1014DelGT might be a common mutation in the Muslim community and might have migrated to the Indian population through a pool of Muslim immigrants (Liede et al, 2009). In North-Eastern region, the mutation of 3889DelAG is higher than the rest of the mutation found (Figure 1f), out of nine, three have the family history and found scattered in studied population; it also found in various populations of the world (Thirthagiri et al, 2008;Farooq et al, 2011). The location of 3889AG is towards the C terminus of BRCA1, within the transcriptional activation domain, a region as well reported to interact with the BRCA2 protein, which plays an important role in double stranded break (DSB) repair (Roy et al, 2012).…”

Prevalence, Risk Factors and Disease Knowledge of Breast Cancer in Pakistan

“…They then estimate the Percentage involvement of these genes. Nine percent of these cancers show alterations in BRCA1 gene while 3 percent have shown BRCA2 variants while the remaining 88 percent of breast and ovarian cancers can be due to the involvement of other genes (Farooq et al, 2011).…”

Epidemiology, Major Risk Factors and Genetic Predisposition for Breast Cancer in the Pakistani Population

“…The results suggested that a wide range of germline PTEN mutations may play a role in the pathogenesis of breast cancer and may vary in different populations. Farooq et al (2011) emphasized on the formulation of a BRCA1 and BRCA2 database for the Pakistani population (Farooq et al, 2011). Data of mutational screening of the these genes exons along with the results of the previous Pakistani studies for both BRCA1 andBRCA2 genes were summed up to prepare a Pakistani database.…”