Genetics and breast cancer risk

Subject: 🏥 Health Care
Type: Exploratory Essay
Pages: 4
Word count: 1083
Topics: Breast Cancer, Cancer, Genetics, Health
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Research Methodology

Evidence Table

Condition Study Design Author,


No. of Subjects Statistically Significant Quality of Study Magnitude of Benefit Absolute Risk Reduction No. Needed to Treat Comments
Genetics and Breast Cancer Risk Case Report 2017 NA Yes 4 points NA P NA Notable study design elements

Which study design is most appropriate to test your study’s research hypothesis?

The most appropriate study design in this methodology would be a case report. Basically, a case report can be defined as an article or a methodology that attempts to describe, analyze, and interpret a certain individual case. Normally, case reports are used when trying to describes unique cases that cannot be explained by known diseases or symptoms, in specific cases that might show and highlight new and useful information, in cases that might reveal important and useful variations of a disease or a condition, or in unique cases whereby an individual patient has two or more unexpected medical conditions such as diseases and disorders. In our case study, we find out that there is a correlation between breast cancer and genetics. More specifically, we find out that both genetic and environmental factors contribute to the development of breast cancer and might as well assist in the prevention efforts. There are two breast cancer susceptibility genes (BRCA1 and BRCA2) that have been revealed to have a direct role in determining whether or not a certain individual develops breast cancer or not. The germline mutations in these two genes roughly account for about 5 percent to 10 percent of the various breast cancer cases. Further research has shown that mutations in other equally important penetrant genes may play a key role in the breast cancer susceptibility. Furthermore, there are other studies currently underway that try to carry out an isolation of these two genes. This will try to identify and characterize these causative variants and discuss the genetic components of susceptibility to breast cancer.

What are the components of this design?

This specific study design has five major components. These include;

  • Research study questions
  • Study proportions
  • Units of analysis
  • Linkage of data to propositions
  • Interpretation of a study’s findings.

Notably, the research study question in our case is, “What is the relationship between an individual’s genetics and her breast cancer risk?” Therefore, the first thing in the carrying out of this research is to attempt to answer this question through the laid out procedures. At this point, we choose whether to employ qualitative or quantitative data. We attempt to answer the question in terms of “why”, “what”, “when”, “how”. At this point, we make use of the literature review in order to narrow down our topic of interest. We then look whether these other articles are conformant with our research and thereafter examine other works on the same topic. Afterwards, we discuss the study propositions and the units of analysis. In our case, we used a total of five different journal articles that relate to our hypothesis and topic of interest. We are able to deduce important information and research revelations that help with the study. Anne-Marie and Barbara, (2000), suggested that there is a strong interplay between genetic and environmental factors with relation to breast cancer. Furthermore, they stated that even though non-genic factors also play a key role in causing breast cancer, genetic compositions account for about 5 to 10 percent of all breast cancer incidents. Andrew, Mark, and Kenan, (2016), stated that the discovery of the two genes, BRCA1 and BRCA2 has paved way for the discovery of more susceptible genes through linkage analysis. They, therefore, stated that these variants only accounted for 50 percent of the heritability of breast cancer. Alternatively, Rebekah Hamilton (2010), argued that both the BRCA1 and BRCA2 genes are suppressor genes and that when a mutation occurs, then, the normal control on cell growth are lost. Therefore, though the Mendelian pattern, each offspring that arises from this cells has a 50 percent chance of inheriting the parental mutation. Paraskevi and Florentia, (2013), stated that in addition to both BRCA1 and BRCA2 genes, technology has allowed the scientists to find other more susceptible genes that cause breast cancer. Among these include the TP53 mutations in Li-Fraumeni syndrome, STK11 mutations that are evident in the Peutz-Jeghers syndrome, PTEN mutations present in Cowden syndrome. Furthermore, less penetrant but causative mutations have been revealed in these hereditary breast cancer cases. These include CHEK2, ATM, PALB2, and BRIP1. All these are examples of mutations that are found to play a role in increasing breast cancer risk. Finally, Thomas and Kara (2017) argued that in order to properly understand the gene-specific risks for breast cancer, we ought to pay more attention to the germline mutations and refine the risk estimates for the breast cancer susceptibility genes. They classified the types of mutations according to the risk posed. Mutations in high risk accounted for 1.4 percent, moderate risk genes accounted for 2.9 percent, mutations in proposed breast cancer genes accounted for 1.7 percent, lynch syndrome genes had 0.5 percent.

Would this design be considered experimental or observational? Why?

This study design would be described as experimental. All the consulted journal articles had conducted research in order to arrive at those conclusions. There are various conclusions that we have arrived at through the intensive and extensive research and experiments conducted. Furthermore, these results were tabulated in order to determine the extent of the risk posed to humans with relation to breast cancer risk and genetics. Furthermore, the results were statistically significant since they helped with the tabulation and evaluation of the risk posed. The authors reported a statistical significance in their findings as well as providing quantitative evidence of significance.

Why did you choose this design over others? Be sure to note all advantages and disadvantages of employing this design to address your particular research question.

Case reports are usually the least level of evidence. However, on the contrary, they are on the front line of evidence since they account for the new changes and dynamic issues that might arise. Furthermore, a case report helps in determining the importance of the observation and research being conducted. Furthermore, case report helps in the identification of a rare manifestation of the disease such as rare mutations. In addition, it is an educational way of sharing the lessons learned. It combines various researchers and merges them into one comprehensive topic for easy analysis. However, it might not be based on systematic studies. Various cases may not be necessarily generalizable.

To what types of bias are this design most vulnerable? Please explain

Case report study designs should be carefully written and analyzed. They should eliminate any chance of biased observations. However, this study design might be subject to various forms of bias such as failure to demonstrate causality. It might also fail to prove, deduce, or confirm the observations.

Did you like this sample?
  1. Apostolou, P., & Fostira, F. (2013). Hereditary Breast Cancer: The Era of New Susceptibility Genes. BioMed Research International.
  2. Hamilton, R. (2009). Genetics: Breast Cancer as an Exemplar. PMC, 327-338.
  3. Martin, A.-M., & Weber, B. L. (19 July 2000). Genetic and Hormonal Risk Factors in Breast Cancer. Journal of the National Cancer Institute, 1126-1135.
  4. Skol, A. D., Sasaki, M. M., & Onel, K. (3 October 2016). The Genetics of Breast Cancer Risk in the Post-Genome Era: Thoughts on Study Design to Move past BRCA and Towards Clinical Relevance. Breast Cancer Research.
  5. Slavin, T. P., Maxwell, K. N., J. L., Vijai, J., Neuhausen, S. L., Hart, S. N., . . . Wenz, B. M. (2017). The Contribution of Pathogenic Variants in Breast Cancer Susceptibility Genes to Familial Breast Cancer Risk. British Journal of Career.
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