Role of Moderate Risk Suseptibilty Genes in Development of Breast Cancer

Abstract

Breast cancer is the most common cause of mortality in females globally and affects the lives of millions of women. It is a leading cause of mortality worldwide, but the dynamics have been changed because of advanced screening and treatment protocols [1]. In the United States, breast cancer has been ranked second most common cause of cancer-related death in women, with the most common being lung cancer [2]. To improve cancer screening, a personalized approach has been discussed, but its implication over large populations can be difficult and require expertise. Early detection leads to a good prognosis whereas the late diagnosis of breast cancer is a challenge for both patient and doctor [3]. Breast cancer became the most prevalently diagnosed cancer worldwide as of 2021 accounting for 12% of new annual cases worldwide, according to the World Health Organization. In2020, there were 2.3 million women diagnosed with breast cancer and 685 000 deaths globally. Multigene panel testing has identified various genes predisposed to breast cancer development. These genes have different penetrance abilities. BRCA1 and BRCA2 genes are the best known high penetrance gene of hereditary breast cancer. Their discovery has revolutionized the effect in cancer assessment. Tumors from BRCA1 and BRCA2 show distinctive clinicopathological characteristics as compared with other genes causing tumors. Beyond BRCA1 and BRCA2, advances in molecular technique have led to the identification of other genes associated with breast cancer. Some other the high penetrance genes are TP53, PTEN, STK11, and CDH1.  Besides high pentrance gene, moderate to low penetrance genes are also recognized as a cancer predisposing genes: PALB, BRIP1, ATM, CHEK2, BARD1, NBN, NF1, RAD51C, RAD51D. Along with risk of breast cancer development these genes also predispose to other malignancies, as well as some genetic disorders.