Breast cancer is a leading cause of female mortality and morbidity worldwide. Data on the incidence and prevalence of breast cancer in Pakistan have historically been limited. The first report of cancer incidence data on the basis of the Karachi Cancer Registry was published in 2000, showing that it was the most common cancer in women. The incidence of breast cancer in Karachi was reported as the highest in all of Asia. A 2008 report by the Pink Ribbon Campaign Pakistan stated that 90,000 new breast cancer cases are detected annually, and the disease caused 40,000 deaths a year. It is likely that reproductive history, environmental and genetic factors all play a role. Pakistan has the highest rate of breast cancer in Asia and spends the lowest percentage of its gross domestic product on health. Dietary factors, obesity, use of oral contraceptives, age and family history are considered important in etiology of breast cancer. Infertility, old age, early menarche, late menopause and positive family history had been found to have relationship with occurrence of breast cancer in Pakistani females. An insight into the above data emphasizes the formulation of a BRCA1 and BRCA2 database for the Pakistani population. The high prevalence of these cancers and the presence of recurrent mutations of these genes in the Pakistani population, especially the observation of a high percentage of BRCA1 variants in ovarian cancer cases, emphasize the need for improving genetic counseling strategies and make genetic testing a part of screening policies. The more work done on the genomics of this disease with relevance to the Pakistani population, the closer a genetic cure targeted for this specific population can be found,. Most cases of breast cancer presented in advanced stage probably due to poor economic status, illiteracy and negligence by patients or their family members.