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Genetical Risk of Breast Cancer



First of all, it's essential to put an emphasis on the fact that the quantity of people who have been diagnosed with cancer increases rapidly all over the world, and thus almost everyone worries about this negative trend an is anxious about the way how to minimize their own risk.

In the scopes of this research paper, the breast cancer and BRCA1 or BRCA2 genes would be discussed while referring to the case of Angelina Jolie – the woman, who has done elective double mastectomy in order to minimize her genetically high risk of breast cancer. (Kluger & Park, 2013)

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BRCA1 or BRCA2 Genes

It is possible to define the proto-oncogenes as the group of genes, which cause the mutation of the normal cells to the cancerous (Adamson, 1987; Weinstein & Joe, 2006). Scholars have proven the fact that the mutations, which take their place in the proto-oncogenes, are usually dominant in nature. The oncogene is the mutated version of the proto-oncogene. The proteins are encoded by the proto-oncogenes. The core functions of these proteins imply the stimulation of the cell division, the cell differentiation’ inhibiting and cell death’ halting.

The entire set of the above-listed processes is vital for the normal functioning of the human body and for the tissues’ and organs’ maintenance. The increased production of proteins is typically exhibited by the oncogenes. Thus, such a trend implies the following processes: increased cell division decreased cell death’ inhibition and decreased differentiation. For this reason, it is possible to state a fact that taken together, the cancer cells are defined by these phenotypes. Consequently, the core molecular target for the anti-cancer drug designers is the oncogenes.

It is essential to refer to the fact that the breast cancer developing risk is mainly associated with the inheriting of the BRCA1 or BRCA2 gene with the deleterious mutation. Both BRCA1 and BRCA2 are the human caretaker genes. It is possible to check the mutations in BRCA1 and BRCA2 through the genetic tests in case if the individual has got the family cancer history, which, in turn, suggests the possibility of the harmful mutation’ presence in one of these two genes. In case if such harmful mutation is found in one of these two genes, there is a set of options for the cancer risk managing.

While referring to the statistical data, the group of risk for breast cancer occurred during the life span consists of 12% of the general female population (Antoniou et al., 2003). In accordance with the latest estimates 50-65 % of the females, who have inherited the harmful BRCA1 mutation and 43-47% of females with the inherited BRCA2 mutation, would develop breast cancer before they are 70 (Chen et al., 2007).

Under the notion of the risk factor for breast cancer it is possible to consider the set of factors, which affect the probability of chance for getting this disease.

While referring to the risk factors, it is essential to use the statistical data in order to show evidence of this factor. Therefore, only 5-10% of cases of breast cancer are caused by the heredity – the gene defects, which have been inherited from a parent.

Among the other risk factors for the breast cancer occurrence, it is possible to outline the gender, race and ethnicity, previous chest radiation, dense breast tissue, certain benign breast conditions, menstrual periods, lobular carcinoma in situ, having children, diethylstilbestrol exposure, birth control (using the oral contraceptives or depot-medroxyprogesterone acetate), hormone therapy’ issuing after menopause, breastfeeding, drinking alcohol, obesity or overweight, physical activity, induced abortion, breast implants, tobacco smoke, night work, vitamin intake, and diet, etc.

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Among the core benefits of genetic testing for breast cancer risk it is possible to outline the following. In the case of the negative result, the patient ensures that there is no need for making preventive surgeries, tests, or special checkups. In the case of the positive test, the individual is motivated to make the risk management decisions, related to the lifestyle, to the preventive measures undertaking and to participate in some medical treatment, which may furthermore minimize the risk of the lethal outcome.

While referring to the core risks of genetic testing for breast cancer, it is possible to state a fact that the direct medical risks of genetic testing are considered to be minimal. The only negative factor in such a case is that the knowledge of the test results may imply the negative or harmful effects for the personal emotions of the patient, one’s medical choices, social relationships, and finances. In case if the individual gets a positive result, one may feel depressed, anxious or angry. Also, the set of difficulties in the process of making the choice of whether to make preventive surgery or not may occur.

It is essential to put an emphasis on the fact that among other potential risks of genetic testing it is possible to outline the violations of confidentiality and privacy of genetic test results. Finally, there is a small, but still a chance of inaccurate test results, which, furthermore, may lead to incorrect information-based decisions.

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In case if the female has got the heredity of the breast cancer, it is highly recommended to make the genetic test in order to minimize the risk of its occurrence while changing the lifestyle (for instance, stopping smoking minimizing alcohol consumption, changing the ways of birth control) with some medical prevention actions, etc.

There is a set of options for managing the risk of breast cancer occurrence in case if the genetic test has shown the positive result (harmful mutation of BRCA1 or BRCA2) – they are the following: chemoprevention, enhanced screening and prophylactic surgery (Chen et al., 2007).

Summary

While referring to the prophylactic surgery, which has been used by Angelina Jolie as the preventive measure for the breast cancer occurrence, it is essential to put an emphasis on the fact that such intervention does not have 100% guarantee that the breast cancer won’t occur (this is mainly caused by the fact that not all the at-risk tissue may be removed by this procedure). For this reason, it is possible to consider such a decision as too extreme one, but still, Angelina has probably grounded her decision on the statistical data (which shows the positive trends in this case) and on the opinions of experts in this area.

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