Open AccessRole of Moderate Risk Suseptibilty Genes in Development of Breast Cancer
Author(s) -
Kouser Abbas,
Amtul Sami,
Ufaque Batool,
Ubedullah Shaikh
Publication year - 2022
Publication title -
journal of pharmaceutical research international
Language(s) - English
Resource type - Journals
ISSN - 2456-9119
DOI - 10.9734/jpri/2022/v34i15b35696
Subject(s) - breast cancer , penetrance , cancer , chek2 , palb2 , stk11 , medicine , oncology , pten , cause of death , gene , bioinformatics , biology , germline mutation , genetics , disease , mutation , phenotype , colorectal cancer , kras , apoptosis , pi3k/akt/mtor pathway
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.