BRCA1 Gene of Breast Cancer

BRCA1 Gene of Breast Cancer
BRCA1 Gene of Breast Cancer

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BRCA1 Gene of Breast Cancer

If you were Rachel’s healthcare provider, what would you do? Provide a rationale for your response

All the patients in the healthcare sector are privy to patient confidentiality. Physicians are not required to release any information regarding their patient to anyone without their consent. The sole purpose of having patient confidentiality is to build a good relationship between the patient and the physician. It also prevents stigmatization of patients suffering from certain disease conditions (Stephens et al., 2012).

However, there instances where patient confidentiality is breached. This occurs in cases where there is concern or safety for other individuals. This means that the disease condition affects another party which has no information regarding the disease. In the case study, Rachel is predisposed to breast cancer since it has been established that she has the BRCA1 Gene of Breast Cancer (Stephens et al., 2012). Since the gene is inherited, there is a high likelihood that both her sisters may be predisposed.

Rachel does not want her sister to know that her sister has the disease condition (Bombonati & Sgroi, 2011). As already established patient confidentiality exists between Rachel and me. However, failure to inform the other party would significantly affect their health status (Bombonati & Sgroi, 2011). Thus, in this case, I would advise Rachel to talk to both her sisters since the case will not involve patient confidentiality. If Rachel does not do so, I would advise them to talk to a different genetic counselor with the hope that she changes her mind.

BRCA1 Gene of Breast Cancer

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Include the pathological processes associated with breast cancer. What role does the BRCA1 gene contribute to managing the patient’s care?

Breast cancer is a multistep process that is triggered with a defect in the cell cycle that regulates how cells divide in the breast. According to Bombonati & Sgroi (2011), breast cancer is made up of four steps. The first step after the dysregulation of the cell cycle processes is the formation of a flat epithelial atypia which is progress to atypical ductal hyperplasia. After some time, it progresses to ductal carcinoma in situ before finally moving the lethal stage that is known as invasive ductal carcinoma (Bombonati & Sgroi, 2011).Once the last stage has developed the disease starts to metastasize and establishes its blood supply and other important physiologic molecules.

BRCA1 gene has been implicated in the majority of the hereditary ovarian and breast cancers.  Physicians normally look for this gene mutation through the family history. Once the physicians have established that patients have these genes, the patient is genetically tested, and if the results turn out to be positive, the patient undergoes prophylactic treatment which is used to prevent ovarian and breast cancer (Bombonati & Sgroi, 2011). The presence of the gene BRCA1 assists patients to know their disease state.

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BRCA1 Gene of Breast Cancer

Describe and explain the role of the BRCA1 and breast cancer 2, an early onset (BRCA2) gene in contribution as a risk factor for breast cancer.

Two genes that have been identified that predispose women to breast cancer. Genetic mutations in the germline of BRCA1 gene predispose 15-45% of all cases of hereditary breast cancer. It has also been associated with 60-80% of all the breast cancer cases in women.

Additionally, it has been associated with 20-40% 0f all the ovarian cancers. Mutations associated with the gene BRCA2 have been known to have a less incidence of breast cancer. The case is low compared to that of BRAC1 (Stephens et al., 2012). Anyone associated with the gene BRAC2 has a 6% incidence of developing breast cancer in their lifetime.

Analyze the risk factors for breast cancer and possible interventions to preventive health management for women and men.

Several factors increase the risks associated with mutations in the genes BRAC1 and BRAC2. Such factors include the presence of bilateral cancer in the same women, family history of breast cancer and cases of having a genetic mutation in the BRAC1 and BRAC2 gene in the family (Stephens et al., 2012). Other factors include alcohol consumption, radiation exposure, being overweight, environmental chemicals and postmenopausal weight gain.

The first preventive measure involves undergoing breast cancer screening that can detect the presence of the gene defects associated with BRAC1 and BRAC2. Several different types of tests are available. They include mammograms, use of biopsies, clinical breast exams, hormone receptor assays and magnetic resonance imaging (Stephens et al., 2012). Early detection is key to early treatment. The other factors are easily preventable.  For example, physical activity reduces incidences of being overweight.

BRCA1 Gene of Breast Cancer

References

Bombonati, A., & Sgroi, D. C. (2011). The molecular pathology of breast cancer progressionThe Journal of Pathology, 223(2), 308-318.

Stephens, P. J., Tarpey, P. S., Davies, H., Van Loo, P., Greenman, C., Wedge, D. C., … & Yates, L. R. (2012). The landscape of cancer genes and mutational processes in breast cancerNature, 486(7403), 400-404.

BRCA1 Gene of Breast Cancer

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