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Machine Learning Algorithms Used in Medical Field with a Case Study
Published in K. Gayathri Devi, Kishore Balasubramanian, Le Anh Ngoc, Machine Learning and Deep Learning Techniques for Medical Science, 2022
In investigative workup environment [14], DM has been made known to diminish the breast malignancy. In standard medical practice, mammograms are evaluated by the radiologists and Classification is done based on the American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) lexicon [15]. If any abnormality is detected in mammogram, a diagnostic workup that includes imaging modalities or additional mammographic views is typically required. Further evaluation using biopsy is recommended when lesion is suspicious. There are some risk factors which might raise the possibility of getting affected with breast cancer. Roughly about 80 percent of breast cancers are found in women neighboring the age of 50. Family history and Personal history may also raise the risk. Women who are with definite genetic mutations, as well as changes to the Breast Cancer (BRCA1 and BRCA2) genes, are at increased risk of having breast cancer during their life. Childbearing and menstrual history and other gene changes may also raise the risk. Due to the subtle difference between lesions and background fibro-glandular tissue, non-rigid nature of the breast and different lesion types, analysis of these images is difficult which leads to significant inter-observer and intra-observer variability [16].
Environmental Disease
Published in Gary S. Moore, Kathleen A. Bell, Living with the Earth, 2018
Gary S. Moore, Kathleen A. Bell
A gene mutation in the gene BRCA1 indicates a 50–85 percent risk of breast cancer when present.52 The protein produced via this gene is involved in fixing errors in DNA. Knowing they possess a mutated form of this important gene may cause some women to decide to prophylactically have one or both breasts removed before cancer develops. Other women with this mutation have opted to have their breasts removed at the first indications of cancer.53 Some patients believe that having this knowledge of a defective gene is not liberating and could lead to more immediate and harmful health consequences, including severe depression and even suicide. However, the genetic knowledge gained by a person may be important to other family members. In the event that severe disease or early death is likely, some argue there must be an ethical obligation to communicate it to a spouse or a significant other because it influences their lives, such as the choices of whether or not to have children.54
How Much Diagnosis Can We Afford?
Published in Pat Croskerry, Karen S. Cosby, Mark L. Graber, Hardeep Singh, Diagnosis, 2017
It is now feasible to obtain a full genomic analysis of an individual. However, much of the information may not be useful, and might even be misleading. A number of common conditions have been found to have a genetic basis, however, their ultimate expression is influenced by many factors and the usefulness of testing is not yet established [36]. Awareness of susceptibility for some hereditary cancer syndromes (such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, and hereditary breast/ovarian cancer linked to BRCA1/2 genes) may help individuals modify their lifestyle, screen more often, and potentially treat certain cancers more aggressively [37]. For other conditions, there is too much complexity to make sound recommendations based on genetics alone (such as type 2 diabetes and coronary artery disease) [36,38].
Air pollution and molecular changes in age-related diseases
Published in International Journal of Environmental Health Research, 2022
B. Hermanova, P. Riedlova, A. Dalecka, V. Jirik, V. Janout, R. J. Sram
Breast cancer is the most frequently diagnosed cancer in the majority of European women. Certain factors are known to increase the risk of this cancer, including hormonal, nutritional and environmental factors, as well as genetic factors (the most important genes BRCA1/BRCA2). One risk factor already mentioned above is the environment in which we live and its associated polluted air. This is a mixture of chemicals containing carcinogenic compounds and substances with endocrine-disrupting properties. It may also result in the development of gene sequence variants (Homaei Shandiz and Hadizadeh Talasaz 2017). Fine particles in the air can promote inflammation or densify breast tissue, and for these reasons exposed women may be more susceptible developing tumours. Women with dense breast tissue are several times more likely to develop some form of breast cancer (Villeneuve et al. 2018). Studies conducted in Canada, Denmark and the USA, for instance, have found that women living in urban areas with high levels of air pollution have as much as a 30% higher risk of developing breast cancer than women living in rural areas. A positive link was also found between premenopausal breast cancer and PM2.5 exposure and a postmenopausal breast cancer and exposure to NO2 (Meijer et al. 2012; Homaei Shandiz and Hadizadeh Talasaz 2017; Schmidt 2018; Villeneuve et al. 2018; White et al. 2018). But Spanish cohort Sister Study found no association between ambient air pollution and breast cancer risk (Reding et al. 2015).
Prospects for limiting access to prenatal genetic information about Down syndrome in light of the expansion of prenatal genomics
Published in The New Bioethics, 2023
Down syndrome is surely a risk factor for several diseases. A person with Down syndrome has an increased risk of having or developing heart defects (with a prevalence as high as 40–60%) or gastrointestinal defects, some immune disorders, leukemia, and dementia later in life (Mayo Clinic 2018). But being at risk for having a disease is not the same as having the disease itself. A person with a BRCA-1 gene mutation is at high risk of developing breast cancer (Fu et al. 2022). But this does not mean that the person always has breast cancer. Prior to developing breast cancer – in childhood, for example – the person with the BRCA-1 mutation does not have the disease.
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].