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Genetic Mutation Responsible For Breast Cancer Case Study

Breast Cancer Care Plan

In addressing the case study of a 31-year-old Ashkenazi woman concerned about her risk of developing breast cancer, it's important to integrate various aspects including genetic factors, patient-care technologies, and evidence-based practice.

Main Elements and Concerns: Pathology Identification

Breast cancer is a malignant tumor originating in the breast tissues and presents a significant concern for women with a family history of the disease. The risk is notably higher in individuals of Ashkenazi Jewish descent, particularly those with a BRCA gene mutation, like the patient's mother (Roberts et al., 2023). BRCA1 and BRCA2 mutations significantly increase the risk of developing breast and ovarian cancers (Lieberman et al., 2022). The patient's Ashkenazi heritage and family history place her at a higher risk, which means careful monitoring and preventive strategies need to be considered (Lieberman et al., 2022).

Development of Plan of Care

The plan of care for this patient should include genetic counseling and testing for BRCA mutations. If positive, options such as regular screening, preventive surgery, or chemoprevention could be considered. Lifestyle modifications and close monitoring for early detection should also be part of the care plan (Haddad, 2020).

Role of Patient-Care Technologies

Point of care testing allows for rapid genetic testing for BRCA...

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…prophylactic surgeries. Lifestyle interventions, such as maintaining a healthy weight, regular exercise, and a balanced diet, have also been shown to play a role in reducing cancer risk (Haddad, 2020).

Conclusion

In this case study, the integration of genetic risk factors, patient-care technologies, and a holistic approach to the patient's physical and psychological well-being are most helpful. The use of evidence-based practice, supported by current research and interdisciplinary insights, will guide the development of an effective and comprehensive plan of care. This approach thus addresses the immediate concerns of breast cancer risk and considers the long-term health and quality of life of the…

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References

Haddad, C. F. (2020). Hereditary breast cancer: review and current approach. Mastology, 30, 1-11.

Lieberman, S., Chen-Shtoyerman, R., Levi, Z., Shkedi-Rafid, S., Zuckerman, S., Bernstein-Molho, R., ... & Goldberg, Y. (2022). Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews. Breast Cancer Research and Treatment, 193(1), 217-224.

Roberts, E., van Veen, E. M., Byers, H., Barnett-Griness, O., Gronich, N., Lejbkowicz, F., ... &Evans, D. G. (2023). Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent. Genetics in Medicine, 100846.

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