BRCA 1 AND BRCA 2 Gene Mutations and Increased Risk Of Breast Cancer. Obed K. Agyei and Natalie A. Rich Department of Biology, North Carolina State University. Abstract. Conclusion.
BRCA 1 AND BRCA 2 Gene Mutations and Increased Risk Of Breast Cancer
Obed K. Agyei and Natalie A. Rich
Department of Biology, North Carolina State University
The amount of protein levels and gene mutations can determine a patient’s rick of developing breast cancer and chances of survival. As it can be inferred from Figure 1, lowlevels of nm-23 (a specific type of protein) can reduce the survival rate of infiltrating ductal carcinoma. These findings by Barnes were supported by three pathologists who had similar conclusions. They concluded that high levels of nm-23 protein will increase a patient’s survival of infiltrating ductal carcinoma. Since infiltrating ductal carcinoma is the most common type of all breast cancer, this research is very significant because a progress can be made to reduce its popularity. Few steps that could be taken to reduce the popularity of infiltrating ductal carcinoma include developing medicines that have high concentrations of nm-23 protein. In comparison to BRCA genes, similar conclusions could be drawn because a mutation in BRCA 1 or BRCA 2 gene, as seen in Figure 2, will reduce the production of protein by the BRCA genes. A reduction in protein production cannot prevent cells from stopping its mass division which ultimately ends up in the build up of tumors. In conclusion, BRCA 1 / 2 genes are highly associated with an individual’s risk of developing breast cancer. Mutation of these genes reduces cell signaling during cell division, thus increasing uncontrollable cell division in the body.
Breast Cancer affects nearly 273,000 people every year in the United States, and women account for almost 95% of the individuals affected. Private companies and the U.S. government spend almost $1 billion on breast cancer research annually to improve its diagnosis and treatment. Breast cancer is a complex, deadly disease highly associated with genetic abnormalities. Since there are numerous types and sub-types of breast cancer, it is very difficult to understand the basic cause of the disease. The objective of this paper is to review how genetic abnormalities correlate with different types of breast cancer. Research in this field has led scientists to determine the main types of breast cancer that manifest in humans and the genetic causes that lead to these manifestations. Much of the research in this field involves experimentation with genes. BRCA1/2 genes were examined among patients with breast cancer and those without the disease. DNA analysis of BRCA1/2 genes was performed. Majority of the patients had mutations on the BRCA1/2 genes while the other control group showed no sign of genetic mutations. Mutations of the BRCA1/2 genes are typically hereditary, but other factors such as radiation can trigger mutations. Types of breast cancer are associated with the part of the breast whose cells are being transformed due to mutated genes, either being the ducts, lobules etc. Further elucidation of the affects of mutated BRCA1/2 is essential for understanding human breast cancer manifestations and future treatment of this complex disease.
High level of nm23
Low level of nm23
As seen in Figure 1 and 2, breast cancer incidence rate is higher in Caucasians women but however, more African-American women tend to die from breast cancer than any other ethnic group. This disturbing findings cautioned us to design an experiment that was geared toward examining the cause of this high mortality rate.
Goal 1: to determine the rate of BRCA1 and BRCA 2 gene mutations based on a patient’s ethnicity and age.
Goal 2: Use Needle Breast Tissue Biopsy to extract cancerous tissues from a total of 20-30 breast cancer patients. Cells from six healthy patients will also be collected.
Goal 3: Use siRNA gene slicing technology to temporary knockdown each of the BRCA genes from the T47D cell lines to determine its effect on mutation rates.
Goal 4: Consult a geneticist to assist in the permanent removal of both the BRCA 1 and BRCA 2 genes from the breast cancer cell lines.
We expect to find a decrease in mutation rate when BRCA genes are permanently deactivated. A deactivated BRCA gene will prevent all necessary mutations in the TD47 cancer cell lines.
We expect to find significant differences in BRCA 1 and BRCA 2 mutation rate among African American and Caucasian women.
Figure 1 represent the survival rate of patients with low and high nm-23 proteins.(Barnes et al 1991).
Figure 2 illustrates breast cancer risk in women. Gray column show risk in women with a strong family history of breast cancer estimated by Easton et.al. (1995); Gray stripped column shows risk in women carrying BRCA 1 or BRCA 2 gene mutation estimated by Struewing et al.(1997); White column shows risk in general population.
(Hofmann et al 2000).
Studies have shown that mutations in certain genes can lead a person to be more susceptible to developing breast cancer. The most commonly studied genes are the BRCA1 and BRCA2 genes. BRCA 1 and BRCA 2 are human tumor suppressor genes that produces proteins to prevent uncontrollable cell growth. In the absence of BRCA genes, the human body risk the chance of preventing mass cell division. The purpose of this study is to review the risk of BRCA mutations, in comparison to other factors such as protein levels, diet, health, and weight that may contribute to the cause or prevention of breast cancer and the type of breast cancer associated.
General Goal Statement
Mutations of the BRCA 1&2 tumor suppressor genes have a tremendous effect of the type of breast cancer that an individual can develop, depending on the cell tissues where the BRCA 1&2 genes are being mutated.
Materials and Methods
Figure 3. A representation of female breast cancer incidence rates in the U.S with respect to ethnicity. (CDC)
Figure 4. Shows female breast cancer mortality rates in the U.S with respect to ethnicity. (CDC)
*(Center for Disease Control and Prevention, 2011). Rates per 100,000 persons among 19 age groups.
This work was supported by the College of Agriculture and Life Sciences , Department of Biology at North Carolina State University, Dr. Miriam Ferzli and Elizabeth Overman.