Breast Cancer Genetics and Genomics

As Rachel’s healthcare provider, I would go ahead and contact Kristin although this action is not fully supported by Rachel. The decision to contact Kristin goes beyond the realm of the two women and touches on public health (McCance & Huether, 2014). Breast cancer is a big public health issue both locally and internationally. Consequently, identification of the environmental and genetic factors that are key in the propagation of breast cancer is one of the main methods of controlling this scourge. Until now, scientists have identified two genes that indicate an individuals’ susceptibility to breast cancer and they are BRCA 1 and BRCA 2. It is imperative to contact Kristin because the prevalence of the cancer propagating genes also aligns with familial genetics.

Kristin’s mother suffered from breast cancer and her sister Rachel has been found to have BRCA 1, a gene that puts her at high risk of suffering from both breast and ovarian cancer. Pathological indicators reveal that when considering the risk factors that are associated with breast cancer, “there is a strong interplay between genetic and environmental factors” (Easton, Ford, & Peto, 2012, p. 96). It is acceptable to try and contact Kristin because breast cancer affects more than 180,000 individuals in the United States every year. The etiology surrounding the risk of breast cancer is a strong indicator that Kristin carries a substantial risk of developing this condition. Statistics also indicate that it is possible to explain approximately 10% of all cases of breast cancer by referring back to the family relations of patients. All these reasons make it hard to ignore Kristin’s situation.

If Kristin is found to have BRCA 1 gene, this is a great indicator that she is susceptible to breast cancer. The BRCA 1 gene “represents a predisposing genetic factor in 15-45% of hereditary breast cancers and at least 80% of breast and/or ovarian cancer” (Parmigiani & Aguilar, 2008, p. 148). In addition, the women who carry BRCA 1 gene have a 60-80% risk of developing breast cancer over the course of their lifetime. Therefore, Kristin has a high likelihood of developing breast cancer, a fact that cannot be ignored. Furthermore, research indicates that individuals who have BRCA 1 are more likely to develop cancer at an early age and also develop associated tumors. The BCRA 2 gene also carries a substantial risk of an individual developing breast or ovarian cancer. Women who have the BRCA 2 gene carry the same risk as that of those with BRCA 1. However, men who have the BRCA 2 gene are six times more likely to develop breast cancer when they are compared to those with the BRCA 1 gene (Parmigiani & Aguilar, 2008, p. 148). Consequently, the presence of BRCA 2 gene does not lessen or increase the chance of cancer among women.

BRCA genes are not the only genes that determine the prevalence of cancer among individuals. Kristin may also be having other risk factors as far as breast cancer susceptibility is concerned. Increased estrogen exposure is one of the hormonal factors that increase the risk of an individual developing breast cancer. Consequently, factors that present increased instances of menstruation also increase the likelihood of breast cancer. Hormonal risk factors also touch on menopause and obesity. Managing all these hormonal conditions is a good intervention for breast cancer. Exposure to radiation has also been known to increase the chances of breast cancer. Another scientifically tested risk factor is alcohol consumption (Kelsey & Ross, 2009). Some diet choices are also known to increase the risk of breast cancer. Eating a well balanced diet and lowering alcohol consumption is a viable method of preventing breast cancer among both men and women (McCance & Huether, 2014).


Easton, D., Ford, D., & Peto, J. (2012). Inherited susceptibility to breast cancer. Cancer surveys, 18(1), 95-113.

Kelsey, J. L., & Ross, P. L. (2009). Breast cancer: magnitude of the problem and descriptive epidemiology. Epidemiologic reviews, 15(1), 7-16.

McCance, K. L., & Huether, S. E. (2014). Pathophysiology: The biologic basis for disease in adults and children. New York: Elsevier Health Sciences.

Parmigiani, G., & Aguilar, O. (2008). Determining carrier probabilities for breast cancer–susceptibility genes BRCA1 and BRCA2. The American Journal of Human Genetics, 62(1), 145-158.

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