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

Occurrence of breast cancer is related to genetic as well as cultural, environmental and life-style factors.Variations in diversity of these factors among different ethnic groups and geographical areas emphasize theimmense need for studies in all racial-ethnic populations. The incidence of breast cancer in Pakistan is highestin Asians after Jews in Israel and 2.5 times higher than that in neighboring countries like Iran and India,accounting for 34.6% of female cancers. The Pakistani population is deficient in information regarding breastcancer etiology and epidemiology, but efforts done so far had suggested consanguinity as a major risk factor forfrequent mutations leading to breast cancer and has also shed light on genetic origins in different ethnic groupswithin Pakistan. World-wide research efforts on different ethnicities have enhanced our understanding of geneticpredisposition to breast cancer but despite these discoveries, 75% of the familial risk of breast cancer remainsunexplained, highlighting the fact that the majority of breast cancer susceptibility genes remain unidentified.For this purpose Pakistani population provides a strong genetic pool to elucidate the genetic etiology of breastcancer because of cousin marriages. In this review, we describe the known breast cancer predisposition factorsfound in the local Pakistani population and the epidemiological research work done to emphasize the importanceof exploring factors/variants contributing to breast cance, in order to prevent, cure and decrease its incidencein our country.