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首页> 外文期刊>Geburtshilfe und Frauenheilkunde >Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer
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Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer

机译：遗传性乳腺癌和卵巢癌的德国联盟的标准，用于遗传乳腺癌和卵巢癌风险基因的种系序列变异

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More than ten years ago, the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) set up a panel of experts (VUS Task Force) which was tasked with reviewing the classifications of genetic variants reported by individual centres of the GC-HBOC to the central database in Leipzig and reclassifying them, where necessary, based on the most recent data. When it evaluates variants, the VUS Task Force must arrive at a consensus. The resulting classifications are recorded in a central database where they serve as a basis for ensuring the consistent evaluation of previously known and newly identified variants in the different centres of the GC-HBOC. The standardised VUS evaluation by the VUS Task Force is a key element of the recall systemwhich has also been set up by the GC-HBOC. The system will be used to pass on information to families monitored and managed by GC-HBOC centres in the event that previously classified variants are reclassified based on new information. The evaluation algorithm of the VUS Task Force was compiled using internationally established assessment methods (IARC, ACMG, ENIGMA) and is presented here together with the underlying evaluation criteria used to arrive at the classification decision using a flow chart. In addition, the characteristics and special features of specific individual risk genes associated with breast and/or ovarian cancer are discussed in separate subsections. The URLs of relevant databases have also been included together with extensive literature references to provide additional information and cover the scope and dynamism of the current state of knowledge on the evaluation of genetic variants. In future, if criteria are updated based on new information, the update will be published on the website of the GC-HBOC (https://www.konsortium-familiaerer-brustkrebs.de/).
机译：十多年前，德国遗传性乳房和卵巢癌的联盟（GC-HBOC）建立了一部专家小组（VUS工作队），该专家组是任务的，该专家组是审查了GC-HBOC的个别中心报告的遗传变异的分类在Leipzig中的中央数据库并在必要时重新分类它们，根据最新数据。当评估变体时，VUS工作组必须达成共识。得到的分类记录在中央数据库中，其中它们是确保在GC-HBOC的不同中心中先前已知的和新鉴定的变体的一致评价的基础。 VUS工作组的标准化VUS评估是GC-HBOC也已建立的召回系统的关键要素。该系统将用于将信息传递给由GC-HBOC中心监视和管理的家庭，因为基于新信息重新分类了先前的分类变量。使用国际建立的评估方法（IARC，ACMG，ENIGMA）编制了VUS任务队的评估算法，并与用于使用流程图到达分类决策的潜在评估标准一起举行。此外，在单独的小节中讨论了与乳腺癌和/或卵巢癌相关的特定个体风险基因的特征和特征。相关数据库的URL还与广泛的文献引用一起包含，以提供额外的信息，并涵盖当前了解遗传变异评估的知识状态的范围和活力。将来，如果根据新信息更新标准，则更新将在GC-HBOC（https://www.konsortium-familiaerer-brustkrebs.de/）的网站上发布。

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