Genetic Mutations Associated with Breast Cancer in Pakistan

Abstract

Breast cancer is the most common malignancy in women worldwide. Various environmental and genetic factors are involved in breast carcinogenesis. Mutations in autosomal dominant genes account for 5-10% of breast cancer cases. It is also the most common female malignancy in Pakistan and account for 35.6% of all cancers in women. BRCA1 and BRCA2 are the key genes associated with familial and early-onset breast cancer in Pakistan. However, mutation in TP53, RAD51 and CHEK2 genes play the marginal role. In this review, the spectrums of genetic mutations associated with breast cancer in Pakistan are discussed in detail.