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[遗传性乳腺癌和卵巢癌女性的咨询、基因检测与预防。德国癌症援助机构“遗传性乳腺癌和卵巢癌”联盟的跨学科建议]

[Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD].

作者信息

Schmutzler R, Schlegelberger B, Meindl A, Gerber W-D, Kiechle M

机构信息

Technische Universität München, Frauenklinik rechts der Isar, Munich.

出版信息

Zentralbl Gynakol. 2003 Dec;125(12):494-506. doi: 10.1055/s-2003-44815.

Abstract

Women with familial predisposition for breast and ovarian cancer represent a small group of patients with very high risk for developing breast and/ or ovarian cancer before the age of 50 years. The individual breast cancer risk can be assessed by genetic counselling and can be specified by genetic diagnostics. As part of the gynaecological consultation, adequate preventive measures are offered. Psycho-oncological counselling may help in decision making. For hereditary carcinomas, counselling is still not considered as a routine medical care, even though basic and routine preventive measures are insufficient for this group of high risk patients. Within the last years, 12 specialized centres in Germany have developed a patient care concept for women with a familial risk for breast and ovarian cancer. Establishment of these centres for familial breast and ovarian cancer and use of evidence-based medical care was initiated in a nationwide interdisciplinary joint research project and supported by the German Cancer AiD. These measures were integrated in a quality assurance concept for structure, process and result optimization. Thus, all requirements for introducing these services into routine patient management have been fulfilled.

摘要

有乳腺癌和卵巢癌家族易感性的女性是一小部分在50岁之前患乳腺癌和/或卵巢癌风险非常高的患者群体。个体患乳腺癌的风险可通过遗传咨询进行评估,并可通过基因诊断加以明确。作为妇科咨询的一部分,会提供适当的预防措施。心理肿瘤学咨询可能有助于做出决策。对于遗传性癌症,即使基本和常规的预防措施对这组高危患者来说并不充分,但咨询仍未被视为常规医疗服务。在过去几年中,德国的12个专业中心已经为有乳腺癌和卵巢癌家族风险的女性制定了患者护理理念。这些家族性乳腺癌和卵巢癌中心的建立以及循证医疗服务的使用是在一个全国性的跨学科联合研究项目中启动的,并得到了德国癌症援助组织的支持。这些措施被纳入了一个用于结构、流程和结果优化的质量保证理念中。因此,将这些服务引入常规患者管理的所有要求均已得到满足。

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