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[遗传性乳腺癌和卵巢癌——基因检测的指征、咨询及突变携带者的选择]

[Hereditary breast and ovarian cancer - indications for genetic testing, counseling and options for mutation carriers].

作者信息

Bürki Nicole

机构信息

Frauenklinik, Kantonsspital Liestal.

出版信息

Ther Umsch. 2010 Jul;67(7):359-66. doi: 10.1024/0040-5930/a000064.

Abstract

Nowadays, women develop breast and ovarian cancer more and more early. Therefore, gynecologists and primary care physicians encounter the question, whether one of their patients has a genetic predisposition for cancer. They are crucial in initiating a referral for genetic counseling as well as in caring for high risk individuals coming up with questions concerning intensified cancer screening, chemoprevention or prophylactic surgery.This review presents the actual knowledge in these topics and delivers the molecular basis of hereditary breast and ovarian cancer mainly due to mutations in the genes BRCA1 and BRCA2. Problematic aspects of the penetrance of these gene mutations are shown and its role in counseling. The important details of the personal and family history, which influence the risk assessment, are pointed out. Tools for the risk calculation are presented as well as criteria for referral for genetic counseling. The important questions, which have to be addressed in pre- and post-test counseling, are discussed. Finally, the options for women with an inherited predisposition in order to reduce their cancer risk are presented. Each of the three management options 'intensified cancer screening', 'chemoprevention' and 'prophylactic surgery' is discussed thoroughly. Recommended cancer screening in male mutation carriers are mentioned as well.

摘要

如今,女性患乳腺癌和卵巢癌的时间越来越早。因此,妇科医生和初级保健医生面临一个问题,即他们的患者是否有癌症的遗传易感性。他们在启动遗传咨询转诊以及照顾那些对强化癌症筛查、化学预防或预防性手术有疑问的高危个体方面至关重要。本综述介绍了这些主题的实际知识,并主要阐述了由于BRCA1和BRCA2基因的突变导致的遗传性乳腺癌和卵巢癌的分子基础。展示了这些基因突变外显率的问题方面及其在咨询中的作用。指出了影响风险评估的个人和家族史的重要细节。介绍了风险计算工具以及遗传咨询转诊标准。讨论了在检测前和检测后咨询中必须解决的重要问题。最后,介绍了有遗传易感性的女性降低癌症风险的选择。对“强化癌症筛查”“化学预防”和“预防性手术”这三种管理选择分别进行了深入讨论。还提到了男性突变携带者推荐的癌症筛查。

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