Inherited Genetic Susceptibility to Breast Cancer in Pakistan

Abstract

Breast cancer is a heterogeneous disease. Several genetic, environmental and lifestyle factors are involved in the aetiology of this disease. Genetic risk factors include alterations (mutations) in genes conferring risks to develop breast cancer. Depending on the associated lifetime risks of this malignancy, these genes are categorised into high-, moderate- and low-risk genes. Women carrying mutations in these genes are at an increased risk to develop breast cancer, ovarian cancer and several other malignancies. Breast carcinoma is the most reported malignancy in Pakistani females. Pakistan is a developing country with most of its population living in rural areas; hence, optimal healthcare facilities are inadequate for the early diagnosis and prevention of this disease. Hence, identification of individuals carrying mutations is clinically relevant as different strategies are available for the early detection, risk reduction and better management of this malignancy. This review summarises the findings of the major studies conducted in Pakistan to investigate the contribution of breast cancer predisposing genes. Furthermore, implications of the current studies and future research potentials are discussed.Key words: Breast cancer gene 1/2, breast cancer, checkpoint kinase 2, genetic susceptibility, Pakistan, RAD51C, tumour Protein p53, Vitamin D receptor

Relation of Vitamin D Deficiency with Breast Cancer Staging in Patients from INMOL Cancer Hospital

“…15 Mutation in oncogenes and tumor suppressor genes is the major risk factor in developing breast cancer. 16 Breast cancer is a major leading cause of death all over the world among women and have accounted over millions of deaths. 17 It is malignant carcinoma that usually first detected by patient herself who notices an abnormality on a self-examination.…”

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

“…Furthermore, in exome sequencing of familial breast cancer patients, deleterious XRCC2 germline mutation has been identified [9,10]. Clinical significance of breast cancer susceptibility genes and their associated mutations relies on their prevalence in a specific population [11]. However, such studies in Mizo population remain unexplored.…”