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首页> 外文期刊>Journal of Community Genetics >Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany
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Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany

机译：家族/遗传性乳腺癌的基因检测-来自英国，法国，荷兰和德国的指南和建议的比较

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摘要

In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counselling, and all agree to perform genetic testing first in an affected person. However, there are differences regarding the thresholds based on certain familial constellations, detailed description of selection criteria, the degree of relatedness between affected individuals and the counsellee, the age of diagnosis, the individual history of early onset breast cancer, bilateral breast cancer, the tumour morphology or the access to intensified surveillance. These differences and open questions not covered by the guidelines, e.g. on how to deal with phenocopies, unclassified variants, genetic variants in newly identified breast cancer susceptibility genes or with family constellations not fitting the criteria, are discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.
机译：在本综述中，对英国，法国，荷兰和德国的家族性/遗传性乳腺癌基因检测的国家指南和建议进行了评估，以评估基因检测的纳入标准。在所有四个国家中，基因检测的获得基本上都依赖于乳腺癌和卵巢癌的家族史。对于大多数选择标准，相似之处显而易见。所有这四项指南都建议将基因检测嵌入遗传咨询框架内，并且都同意首先在受影响的人中进行基因检测。但是，基于某些家族星座的阈值，选择标准的详细描述，受影响的个体与被咨询者之间的相关程度，诊断年龄，早期发病的乳腺癌的个体病史，双侧乳腺癌，肿瘤形态或获得强化监护。这些差异和准则未涵盖的未解决问题，例如讨论了如何处理表型，新分类的乳腺癌易感基因中的未分类变体，遗传变体或不符合该标准的家庭成员。新证据通常会慢慢纳入指南。为协调准则而进行的交流过程将确保整个欧洲的高质量医疗保健。

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