Case study: Cancer, Genetics, and Genomics

As a heath care provider of Rachel, I would recommend proper assessment of the risks of the breast cancer 1 and the start of the treatment process. Rachel should also try to make effort to contact her sister Kristin to ensure that she is also tested. The pathological processes related with breast cancer projects that the condition is a major cause of deaths for women in the U.S. According to Fu (2014), close to 135 of females were diagnosed with breast cancer. The condition often emerges from epithelial cells and the condition progresses. Lumps later form small units of cancerous cells, which eventually develop into cancer. Interactions of the endocrine and biological aspects could contribute to the occurrence of cancer. Environmental factors can also promote gene mutation among the cells bringing about malignancy.
In terms of Rachel’s case, the history of the family is the man factor causing breast cancer. BRCA1 and breast cancer 2 increases the risks for cancerous through increasing the mutation of the cancer cells. The evaluation of the BRCA1 gene makes it possible to understand the mutation process and levels among the patients making it possible to create a god patient care plan (Caplan, 2014). The gene helps to manage the breast cancer condition effectively.
The risk factor that exposes women to breast cancer includes late menopause, no pregnancy, family history, and earlier menses among others. Hereditary health condition could also lead to breast cancer. Around 50% of the defects can be linked with the mutations of the BRCA1 genes and BRCA2, whereby altered genes acts as the carriers of breast cancer (Senkus, et al., 2015). Family history could also create allow for increased exposure to estrogen associated with the increased risks of breast cancer. Potential measures that could be used in preventing breast cancer and managing the situation in both men and women includes proper evaluation of the diagnosis, assessment of the current stage of the condition, and the selection of the appropriate therapy. Biopsy and ultrasound should be undertaken to determine the scope of the condition.

Caplan, L. (2014). Delay in breast cancer: implications for stage at diagnosis and survival. Frontiers in Public Health, 2.
Fu, M. R. (2014). Breast cancer-related lymphedema: Symptoms, diagnosis, risk reduction, and management. World Journal of Clinical Oncology, 5(3), 241.
Senkus, E., Kyriakides, S., Ohno, S., Penault-Llorca, F., Poortmans, P., Rutgers, E., … & Cardoso, F. (2015). Primary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Annals of Oncology, 26(suppl_5), v8-v30.

Case study:
Cancer, Genetics, and Genomics

Rachel comes from a family with a history of breast cancer on her motherвЂTMs side. RachelвЂTMs mother died of breast cancer when she was very young. Rachel has two sisters, Lisa and Kristin. Rachel has remained close to Lisa, but she no longer has a relationship with Kristin. At a routine checkup, Rachel is told about the availability of genetic testing for identifying a predisposition to breast cancer. Her doctor recommends the test to Rachel given her family history. Rachel has the genetic testing done and finds that she has a mutated breast cancer 1, early onset (BRCA1) gene. Her doctor tells her she is at high risk for developing breast and ovarian cancer. RachelвЂTMs doctor suggests she ask her sisters to be tested also, so they can take the proper preventative measures. Rachel feels comfortable sharing this information with Lisa, but she has not spoken to Kristin in many years. Rachel tells her doctor that she is not in contact with Kristin and will not make an effort to tell her about BRCA1 and genetic testing. RachelвЂTMs doctor feels confident that she can locate Kristin but worries about breaching patient confidentiality if she goes against RachelвЂTMs wishes.

If you were Rachel’s healthcare provider, what would you do? Provide a rationale for your response. Include the pathological processes associated with breast cancer. What role does the BRCA1 gene contribute to managing the patientвЂTMs care? Describe and explain the role of the BRCA1 and breast cancer 2, early onset (BRCA2) gene in contribution as a risk factor for breast cancer. Analyze the risk factors for breast cancer and possible interventions to preventive health management for women and men.