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BRCA1基因突变及其与卵巢癌的关联:对高级执业护士的启示

BRCA1 genetic mutation and its link to ovarian cancer: implications for advanced practice nurses.

作者信息

Brunsvold Amy N, Wung Shu-Fen, Merkle Carrie J

机构信息

Oncology Unit, University Medical Center, Tuczon, Arizona, USA.

出版信息

J Am Acad Nurse Pract. 2005 Dec;17(12):518-26. doi: 10.1111/j.1745-7599.2005.00091.x.

DOI:10.1111/j.1745-7599.2005.00091.x
PMID:16293160
Abstract

PURPOSE

The purpose of this paper is to review (a) the linkage between the BRCA1 gene and ovarian cancer and (b) BRCA1 testing and its related issues. This review is aimed for nurse practitioners (NPs), who may be in positions to identify those at risk for BRCA1-associated ovarian cancer and to assist patients with related issues.

DATA SOURCES

Data sources include reviews and original research from scholarly journals and Internet sites.

CONCLUSIONS

Ovarian cancer is a deadly disease. Identification of those at risk because of BRCA1 mutation is possible through genetic testing. Testing for BRCA1 gene mutations has many implications whether results are positive or negative. Those with positive results will be faced with decisions regarding the best management strategies. Negative results do not completely eliminate ovarian cancer risk. Current management options for carriers of the BRCA1 mutation include taking no action, increasing surveillance for ovarian cancer, and chemoprevention with oral contraceptives or prophylactic oophorectomy for those who have completed childbearing. It is essential that NPs have knowledge underlying the issues and concerns of patients and their families at risk for BRCA1-associated ovarian cancer.

IMPLICATIONS FOR PRACTICE

NPs are in a unique position to help identify BRCA1 mutation carriers and to assist them and their families with the complex issues involving genetic testing and management options. Understanding these issues will allow NPs to give appropriate care that may include making appropriate referrals to certified genetic counselors and having balanced discussions on treatment options. Such measurements may improve early diagnosis of ovarian cancer and increase survival from this disease.

摘要

目的

本文旨在综述(a)BRCA1基因与卵巢癌之间的联系,以及(b)BRCA1检测及其相关问题。本综述针对执业护士(NP),他们可能有能力识别那些有患BRCA1相关卵巢癌风险的人,并协助患者解决相关问题。

数据来源

数据来源包括学术期刊和互联网网站的综述及原创研究。

结论

卵巢癌是一种致命疾病。通过基因检测可以识别出因BRCA1突变而有风险的人。无论BRCA1基因突变检测结果是阳性还是阴性,都有许多影响。检测结果为阳性的人将面临关于最佳管理策略的决策。阴性结果并不能完全消除卵巢癌风险。目前针对BRCA1突变携带者的管理选择包括不采取行动、加强对卵巢癌的监测,以及对于已完成生育的人采用口服避孕药进行化学预防或预防性卵巢切除术。执业护士必须了解BRCA1相关卵巢癌患者及其家属所面临的问题和担忧背后的知识。

对实践的启示

执业护士处于一个独特的位置,能够帮助识别BRCA1突变携带者,并协助他们及其家人解决涉及基因检测和管理选择的复杂问题。了解这些问题将使执业护士能够提供适当的护理,这可能包括向认证的遗传咨询师进行适当的转诊,并就是否进行治疗进行全面的讨论。这些措施可能会改善卵巢癌的早期诊断并提高患者的生存率。

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