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Mammographic Screening and Breast Cancer Management – Part 1
Published in Sandeep Reddy, Artificial Intelligence, 2020
‘Breast cancer’ denotes a common and important group of diseases which represent about one in four cancer deaths in women worldwide (BreastScreen Australia monitoring report, 2014–2015). Approximately one in eight women will be diagnosed with breast cancer at some point in their lives. The lifetime risk of developing breast cancer for a woman with a faulty BRCA1 or BRCA2 gene is approximately 70% (Cancer Australia, 2019). Comprehensive information on breast cancer risk factors (see Table 4.1) and their supporting evidence are available at Cancer Australia (2019). Early detection and treatment of breast cancer, when smaller and less likely to have spread to other parts of the body, is associated with longer survival (Saadatmand et al., n.d.). Delays in diagnosis and treatment are associated with worse outcomes (Rossi et al., 1990). More advanced cancers generally require more intensive treatments, and therapies for advanced cancer are associated with decreased quality of life (Paraskevi, 2012).
Classification of Genetic Mutations
Published in Adwitiya Sinha, Megha Rathi, Smart Healthcare Systems, 2019
Megha Rathi, Ishant Tyagi, Jatin Shad, Shubham Sharma, Siddharth Gaur
Mutations can be defined as permanent changes that may occur in a genetic sequence. The word mutation basically refers to changes affecting nucleic acid. They are the reason why every organism is different (Davies et al., 2002). These changes can have different consequences for different organisms as they occur at distinct levels. Some of these changes only affect the organism carrying them, while some others affect the descendants of the organism as well. These rates of mutation can differ between genomes and also within a genome. Mutations are a common occurrence. They may benefit us, harm us, or do nothing to us. This depends on the location where gene change occurs. Mutations that are nonneutral are dangerous. Generally, base pairs are affected by mutations, where the effect of mutation is greater and the probability of mutation to be hazardous is more (Nigro et al., 1989). A single mutation is unlikely to be responsible for cancer. Multiple mutations throughout our life can cause cancer. This is the reason behind the fact that older people are more susceptible to cancer than younger people, as they have more chances for those mutations to add up. Many types of genes may contribute toward the development of cancer. The gene that is mutated most commonly of all is TP53 (Omoto et al., 2004), which leads to the production of a protein that hinders the growth of tumors. Le‐Fraumeni syndrome, a rare inherited disorder leading to higher risk of developing cancer, is caused by a germ line mutation in the gene. BRCA1 and BRCA2 (Brooker, 2009) genes are two inherited mutations linked with breast and ovarian cancer syndrome, a disorder marked by an enhanced lifelong danger of these two cancers (breast and ovarian) in women. Other types of cancers have been linked with this particular syndrome, like prostate and pancreatic cancers and breast cancer in males. PTEN (Omoto et al., 2004) is another protein producer gene that suppresses tumor growth. Mutation in these genes increases the risk of breast, thyroid, and endometrial cancer. These genes are actually protective genes. But when these genes mutate, cells grow without any control and a tumor may form.
Gold nanoparticles induce G2/M cell cycle arrest and enhance the expression of E-cadherin in breast cancer cells
Published in Inorganic and Nano-Metal Chemistry, 2020
Shaimaa Abdel-Ghany, Mennatallah Mahfouz, Nada Ashraf, Hussein Sabit, Emre Cevik, Mokhtar El-Zawahri
The Partner And Localizer of BRCA2 (PALB2) is a key protein that interacts with BRCA1 and BRCA2 and plays pivotal roles in homologous recombination (HR) DNA repair,[40] and its mutation is associated with increased breast cancer risk. PALB2 elevated expression was significantly associated with poorer overall survival (p < 0.01) in patients with stage III or nearby lymph node metastasis,[24] and it assume to play a role in cells too. In our study, exposing breast cancer cells to AuNPs resulted in downregulation of PALB2, and this was correlated also with decrease in the overall cell viability. This data could indicate that AuNPs could enforce cell suicide via suppression of PALB2. The expression of PALB2 is associated not only with familial type of BC, but also with sporadic type, as the absolute breast-cancer risk for PALB2 female mutation carriers by 70 years of age ranged from 33% in patients with no family history of BC to 58% in those patients with two or more first-degree relatives with breast cancer at 50 years of age.[41]
Breast cancer classification on thermograms using deep CNN and transformers
Published in Quantitative InfraRed Thermography Journal, 2022
Ella Mahoro, Moulay A. Akhloufi
Studies have found mutations in two genes known as breast cancer (BRCA) genes, BRCA1 and BRCA2, are associated with 5% to 10% of breast cancers [2]. Gene mutations and the absence of alleles in the BRCA1 locus have been demonstrated to lead to early breast cancer [3]. However, these genes can be damaged during adulthood by toxins, radiation, and other chemicals such as free radicals [4]. Radiologists’ main role is to make accurate differential diagnoses based on the medical images of their patients and a wide range of applications use image classification, from identifying disease to determining malignancy type [5].
Recent advances in multifunctional dendrimer-based nanoprobes for breast cancer theranostics
Published in Journal of Biomaterials Science, Polymer Edition, 2022
Prashant Kesharwani, Rahul Chadar, Rahul Shukla, Gaurav K. Jain, Geeta Aggarwal, Mohammed A.S. Abourehab, Amirhossein Sahebkar
There are several risk factors associated with the development of BC including personal and family history, breast tissue density, diet and specific exposures. Consumption of fatty diet is a highly focused risk factor of BC pathophysiology [60]. In a cohort study, it was demonstrated that dietary consumption of cholesterol resulted in a strong breast cancer risk [61]. Recently in the MMTV-PyMT mouse model, the impact of elevated cholesterol on breast tumor pathogenesis was evaluated [62]. It was found that a diet rich in cholesterol and normal in fat content significantly reduces tumor latency and enhances tumor growth which implied that cholesterol itself can play important role in tumor pathophysiology. Cholesterol affects tumor pathophysiology by enhancing lipid raft formation and membrane signaling in the BC cells. It was found that cholesterol metabolite 27 hydroxycholesterol (27HC), functions as an active signaling molecule of endogenous ER modulator and as liver X receptor (LXR) agonist. While 27HC enhances tumor growth by acting on the estrogen receptor of BC cells and on LXR, it also acts by initiating epithelial to mesenchymal transition and metastasis [63, 64]. It was established through several reports, that 27HC level gets increased in breast tumor biopsies compared to a normal breast cell and this strongly evidenced that 27HC plays a significant role in BC pathophysiology [65]. Additionally, hereditary mechanisms also account for a 10-15% portion of BC cases and is mostly associated with genetic mutation inheritance of BRCA1 or BRCA2 genes [66]. Pathophysiological features of tumors can potentially influence the choice for treatment and even probable results or prognosis. Tumor tissues can be assessed for such features through histology, immunohistochemistry, fluorescent in situ hybridization, molecular and genetic profiling [67].