The human body is an extremely complex organism; however, scientists learn increasingly more about the processes taking place inside of it. It also applies to such a field as genetics, since many important discoveries have been made that allow experts to conclude how the genome works and how chromosome rearrangements are carried out. These studies, in turn, approved a new insight into the many serious diseases. The purpose of this final essay is to combine all the information studied on the occurrence, development, and impact of such a severe illness as cancer, namely breast cancer.
For analyzing the detailed characteristics of the disease, general information about it must be obtained first. Cancer, in a broad sense, means a tumor that occurs during uncontrolled cellular proliferation (Nussbaum et al., 2016). It is a malignant formation that can cause metastases and penetrate neighboring cells and tissues. From the genetic basis, passenger mutations and driver gene mutations are distinguished, which have the most significant influence on the progression of cancer (Nussbaum et al., 2016). Besides, chromosomal mutations can be caused by rearrangements of chromosomes, their destruction, as well as amplification, that is, by the numerous appearances of the same gene. Due to a large number of possible sources of disorders, cancer is often inherited and transmitted in families, as one specific mutant gene is transmitted (Nussbaum et al., 2016). However, many factors can influence the appearance of a predisposition to cancer or the formation of the disease itself, including other genetic disorders.
Accordingly, there are many types of laboratory testing, depending on the type of cancer suspected and a combination of other factors. The analyses differ in purpose since testing can be performed to determine the stage of the disease itself or to evaluate its development (“Laboratory tests,” n.d.). The objects of examination can also be different and include both direct tumor cells to study their properties, and a general blood test to detect the presence of cancer cells in the body. Among the variety of criteria, one can single out the Mammaprint test, used to determine the probability of breast cancer recurrence, and the Blueprint test (“Laboratory tests,” n.d.). The use of unique tumor markers is also widespread, which allows one to determine the presence of specific genes and antigens in a person. An example of such tests is CA-125, utilized to detect cancer antigen 125 (“Laboratory tests,” n.d.). Thus, in the field of studying cancerous tumors, there are a vast number of analyses designed for different purposes and various modifications of the disease.
As mentioned above, chromosomal analysis is one of the most important ways and methods used in the study of cancer. This type of examination is of particular importance in the study of breast cancer since most of these tumors have clonal marker chromosomes or abnormal karyotypes (Vance, 2020). In addition to being used to detect a disease, this method can also be utilized to monitor the condition of patients. The chromosome analysis process involves culturing cells, which are then examined with a microscope to determine the development of a malignant tumor. Accordingly, monitoring the state allows both to make predictions about the development of the disease and to identify a specific type of illness. Thus, the use of chromosome analysis is crucial for the study of breast cancer.
Although factors that increase the possibility of developing this disease are known, there are several theories of the origin of cancer from a medical and genetic point of view. Initially, there were several of the most common approaches, each of which has its drawbacks. Although the theory of mutation is considered primary, non-cancerous tissues often exhibit genetic changes in the genes that initiate and support cancer (Hanselmann & Welter, 2016). The hypothesis of mitochondrial dysfunction ignores the hereditary factor in the occurrence of cancer, as well as the development of the disease under the influence of certain substances. Thus, many theories do not take into account one or more critical elements, which are the first step to developing the disease, for example, a genetic predisposition. Therefore, biochemical, physical, and biodynamic factors are currently considered in the study of this illness (Hanselmann & Welter, 2016). As for the hereditary predisposition, researchers agree that the advance of the disease occurs due to a combination of genetic factors and environmental influences (Nussbaum et al., 2016). Thus, breast cancer is a complex disease, the development of which is influenced by many aspects.
At the same time, some gene mutations can also affect its development. Studies show that these anomalies occur in the genes most susceptible to them – driver genes (Rasnick, 2016). The situation is complicated by a massive number of variations that can be caused by a variety of factors, including the environment. In breast cancer, the most dangerous modifications are in the BRCA 1 and BRCA 2 genes. In the normal state, they help repair damaged DNA molecules, but if mutated, they can begin to stimulate tumor progress. These genes are also dangerous because they are inherited and thereby increase the chances of developing breast cancer by several times. If the family has a precedent for this disease, regular examinations are necessary to reduce the risk of a tumor. It is also possible to undergo genetic testing to detect the presence of mutations in these genes. Although breast cancer is not considered a purely hereditary disease, multiple hereditary causes need to be monitored.
The direct connection of breast cancer with genetics makes scientists look for a distinctive approach to both the detection and treatment of this disease. Ultimately, this translates into several government strategies aimed at covering screening services. These policies are, for example, the Affordable Care Act (ACA), which, together with many provisions in specific states, guarantees the availability of such services for women (“Coverage of breast cancer services,” 2019). Acts like NBCCEDP and BCCPTA of 2000 allow women without Medicaid coverage to receive multiple breast cancer treatment attendances (Subramanian & Keating, 2017). These solutions include, first of all, mammograms for screening, but genetic testing may also be included in the list of available funds. Such aid is especially important for women after 35 years since studies show that the risk of developing breast cancer only increases with age (Forman, 2020). Thus, medical institutions introduce particular policies aimed at screening and monitoring the status of women at all stages of the condition, from detection to the postoperative state.
Speaking about the possible causes of the disease, it is worth noting that genetic predisposition and environmental influences are not the only factors. Multiple sources indicate that this disease can be caused by a combination of physical and biochemical factors related to the patient’s lifestyle (Hanselmann & Welter, 2016). Thus, studies confirm that obese people are at much higher risk (Forman, 2020). Moreover, obesity is dangerous not only in adulthood but also in childhood. How quickly and in what places does weight gain in childhood directly affect breast development, and at the same time, the probability of developing tumors. Therefore, maintaining a balanced diet, which includes vegetables and fruits, slightly reduces the risk of breast cancer.
Nutritional assessment and evaluation are necessary to determine how healthy and balanced a person’s diet is. This analysis is based on the relationship between nutrition and health, the prevention, and diagnosis of cancer, as well as directly during treatment to monitor effectiveness. It should be noted that such an assessment can be carried out by tracking the number of carotenoids and vitamin C in human blood since they are directly related to the number of fruits and vegetables consumed (Bakker et al., 2016). Analysis of the condition is carried out by using various methods, for example, prognostic nutritional index, which allows predicting the development of the illness. The presence of certain types of carotenes lessens the danger of the disease, which helps doctors to make adjustments to the diet, thereby reducing the risk of cancer. However, it should be remembered that this correction is only an additional factor since it is impossible to get rid of this disease by changing the diet.
Thus, cancer is a common, but no less dangerous genetic illness. Even though there are many testing methods, their application is not always carried out on time. Detecting cancer in advance is difficult due to a vast combination of factors, from genetic heredity to a person’s lifestyle. However, there are various government measures and acts aimed at facilitating access to screening methods for women of all ages and social statuses. Breast cancer is a widespread disease among women, but with a healthy lifestyle and regular testing, it can be avoided.
References
- Bakker, M., Peeters, P., Klaasen, V., Bueno-de-Mesquita, H., Jansen, E., Ros, M., Travier, N., Olsen, A., Tjønneland, A., Overvad, K., Rinaldi, S., Romieu, I., Brennan, P., Boutron-Ruault, M.-C., Perquier, F., Cadeau, C., Boeing, H., Aleksandrova, K., Kaaks, R.,…van Gils, C. (2016). Plasma carotenoids, vitamin C, tocopherols, and retinol and the risk of breast cancer in the European Prospective Investigation into Cancer and Nutrition cohort, 2. The American journal of clinical nutrition, 103(2), 454-464. Web.
- Coverage of breast cancer screening and prevention services. (2019, September 26). Kaiser Family Foundation. Web.
- Forman, M. R. (2020). Breast cancer and nutrition: A paradigm for prevention in 3D across the life course. Frontiers in Oncology, 10, 129. Web.
- HanEdelmann, R. G., & Welter, C. (2016). Origin of cancer: An information, energy, and matter disease, Frontiers in Cell and Development Biology, 4(121), 1-12. Web.
- Laboratory tests. (n.d.). Cancer Treatment Centers of America.
- Nussbaum, R. L., McInnes, R. R., & Huntington, F. W. (2016). Thompson & Thompson genetics in medicine (8th ed.). Elsevier.
- Rasnick, D. (2016). The chromosomal imbalance theory of cancer: Autocatalyzed progression of aneuploidy is carcinogenesis. Science Publishers.
- Subramanian, S., & Keating, N. L. (2017). Delays in breast cancer diagnosis after a state policy limiting Medicaid enrollment. Cancer, 123(17), 3219–3221. doi:10.1002/cncr.30769
- Vance, G. H. (2020). Cytogenetics/cytogenetics. In E. Keohane, K. Otto, & J. Walenga (Eds.), Rodak’s hematology (6th ed, pp. 525-540). Elsevier.