Breast Cancer, Genetics, and Genomics


Rachel has a family history of breast cancer on her mother’s side and finds that she has a mutated breast cancer 1. She has two sisters, Lisa and Kristin, so it is suggested they be tested also.


According to the latest regulation, I am not allowed to disclose patient’s medical information in terms of breast cancer. Therefore, I will not locate Kristen to discuss the issue. Due to the fact that my current patient is reluctant to contact one of her sisters I would try to investigate whether Rachel could contact Lisa in that matter. It would be appropriate to ask Lisa to inform their sister about BRCA 1 and 2 genes testing and inform her about the preventive measures available (Newman, 2014). In general, it is crucial to instruct the patient about the significance of this genetic testing. If these attempts are unsuccessful as well, I will consider contacting another specialist such as counselor to provide a consultation to the woman.

Pathological Processes of Breast Cancer and BRCA 1

The condition evolves in ductal epithelium. This form of cancer metastasizes rapidly and includes biologic, phenotypic, and other alterations. Various epigenetic pathways can become malignant. BRCA 1 gene can mutate and lead to different forms of cancer (Newman, 2014). Healthcare specialists can determine individuals who are predisposed to this gene mutation through careful family observance. When they are knowledgeable of a patient at risk, they can advise him or her to take the necessary tests. If the results are positive, the person can receive prophylactic care.

BRCA1 and BRCA 2

The two genes serve as tumor suppressors. They prevent uncontrolled cell growth; however, they can mutate in a number of ways. Certain forms of BRCA1 and BRCA2 mutations can put individuals in jeopardy of cancer development. When someone is positive for this gene testing, this individual is likely to develop cancer A mutation (Newman, 2014). Patients with aggravated heredity are more susceptible to having breast or ovarian cancer in the future as well.

Risk Factors and Possible Interventions

Risk factors include aggravated heredity, radiation exposure, and improper lifestyle (Brown & Simpson, 2013). Family background is one of the most crucial factors, for instance, when a patient has several family members with gene mutations and multiple forms of cancer he or she is considered to be at risk (Anstett, 2016). The possible interventions include early screening to avert the emergence of malignant tumors and gene testing. Such methods as mammograms, ultrasounds, and profiling have proved to be effective. Both men and women can receive chemoprevention or surgical interventions to prevent this dangerous condition if gene testing has revealed mutations (Anstett, 2016).


Anstett, P. (2016). Breast cancer surgery and reconstruction: What’s right for you. Lanham, MD: Rowman & Littlefield.

Brown, K. A., & Simpson, E. R. (2013). Obesity and breast cancer: The role of dysregulated estrogen metabolism. New York, NY: Springer.

Newman, L. (2014). Breast cancer, an issue of surgical oncology clinics of North America. New York, NY: Elsevier.