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[遗传性乳腺癌]

[Hereditary breast cancer].

作者信息

Møller Pål, Maehle Lovise, Apold Jaran

出版信息

Tidsskr Nor Laegeforen. 2005 Nov 17;125(22):3136-8.

Abstract

Norwegian health care for women at risk of inherited breast cancer conforms with the European consensus guidelines published in 1999 and the Norwegian legislation regulating the use of predictive genetic testing. This paper represents a consensus between all medical genetic institutions in Norway handling inherited breast cancer through the Norwegian Group on Inherited Cancer. It is an update based on new knowledge, the structure of our health service and locally available technology and health care resources. The indications for referring patients to genetic testing are maintained. The demonstration of local founder BRCA1 mutations has been used to develop a high capacity for testing for these mutations. Mutation carriers should be offered annual MRI of the breasts for early diagnosis. Oophorectomy at end of childbearing ages is advocated in BRCA mutation carriers and breast-ovarian kindreds. The clinical geneticists have the role of coordinating health service to those in need, and are required to collaborate to present the empirical results of the effects of the interventions.

摘要

挪威针对有遗传性乳腺癌风险的女性的医疗保健符合1999年发布的欧洲共识指南以及挪威关于使用预测性基因检测的立法。本文代表了挪威所有通过挪威遗传性癌症小组处理遗传性乳腺癌的医学遗传机构之间的共识。它是基于新知识、我们的卫生服务结构以及当地可用技术和医疗保健资源进行的更新。将患者转诊进行基因检测的指征保持不变。已利用当地发现的BRCA1突变来提高对这些突变的检测能力。应向突变携带者提供每年一次的乳房MRI检查以进行早期诊断。提倡在BRCA突变携带者和乳腺-卵巢家系中,在育龄结束时进行卵巢切除术。临床遗传学家负责协调为有需要的人提供卫生服务,并要求他们合作展示干预效果的实证结果。

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