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

[摘要] 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 aBRCA1andBRCA2database 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 theBRCAgene. 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 bothBRCA1andBRCA2genes were summed up to prepare a Pakistani database. Percentage involvement of these genes was estimated. Nine percent of these cancers show alterations inBRCA1gene while 3 percent have shownBRCA2variants. The remaining 88 percent of breast and ovarian cancers can be attributed to the involvement of other genes.

[学科分类] 肿瘤学