Early-Stage Progression of Breast Cancer

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Breast Cancer: From Bench to Personalized Medicine

Abstract

Breast cancer consists of group of molecularly heterogenous disease in which breast cells start growing in a prolific way. Globally, breast cancer is one of the most common cancers and is the main cause of cancer deaths in women. As compared to develo** countries, developed countries showed higher prevalence rate of cancerous cells of breast among women. There are five different stages of breast cancer. The proliferation of breast cells can start in different areas of breast, e.g., ducts, lobules, and tissues lie in between them. Stage zero breast cancer is non-invasive ductal carcinoma in situ DCIS, whereas stage 1 through stage 4 is called invasive breast cancer. The commonly known categories of invasive type breast cancer are IDC (Invasive ductal carcinoma) and ILC (Invasive lobular carcinoma). Early-stage breast cancer has considerably high potential to cure. Sensitivity of the chemotherapy is affected due to the cancer characteristics and by molecular classification. Molecular classification of breast cancer based on estrogen receptor negative group such as HER2 enriched, normal breast, and basal shaped is more sensitive to chemotherapy as compared to estrogen receptor positive group having luminal type disease. Etiology of breast cancer involves both genetic and non-genetic factors. Genetic counseling of the patient must consider both profiles of family history along with mutation location inside the body. Susceptibility genes associated with breast cancer etiology and prognosis can be classified as low penetrance genes and high penetrance genes. Mutations and polymorphisms in low penetrance genes are frequent in population and are linked with low risk as compared to high penetrance genes mutations that are linked with high risk. Mutations involved in breast cancer are identified by clinical genetic testing that provides survival benefits to the patients by focusing on early screening and prevention strategies. A wide range of cancer cases are reported because of the mutations in any of the high penetrance breast cancer genes including PTEN, STK11, BRCA1, TP53, BRAC2, CDH1. Different studies have reported that few number of low penetrance genes have been used as an advance genetic testing methods. Association of the low penetrance genes such as BARD, BRIP, MLH, MSH2 & 6, PMS2, NBN, RAD51C & 1D with breast cancer is still a question of debate.

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Correspondence to Nosheen Masood .

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Gul, H., Iqra, Masood, N. (2022). Early-Stage Progression of Breast Cancer. In: Shakil Malik, S., Masood, N. (eds) Breast Cancer: From Bench to Personalized Medicine. Springer, Singapore. https://doi.org/10.1007/978-981-19-0197-3_6

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