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德国遗传性乳腺癌和卵巢癌联盟的共识建议

Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.

作者信息

Rhiem Kerstin, Auber Bernd, Briest Susanne, Dikow Nicola, Ditsch Nina, Dragicevic Neda, Grill Sabine, Hahnen Eric, Horvath Judit, Jaeger Bernadette, Kast Karin, Kiechle Marion, Leinert Elena, Morlot Susanne, Püsken Michael, Schäfer Dieter, Schott Sarah, Schroeder Christopher, Siebers-Renelt Ulrike, Solbach Christine, Weber-Lassalle Nana, Witzel Isabell, Zeder-Göß Christine, Schmutzler Rita K

机构信息

Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.

Department of Human Genetics, Hannover Medical School, Hannover, Germany.

出版信息

Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19.

Abstract

BACKGROUND

The German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) has established a multigene panel (TruRisk®) for the analysis of risk genes for familial breast and ovarian cancer.

SUMMARY

An interdisciplinary team of experts from the GC-HBOC has evaluated the available data on risk modification in the presence of pathogenic mutations in these genes based on a structured literature search and through a formal consensus process.

KEY MESSAGES

The goal of this work is to better assess individual disease risk and, on this basis, to derive clinical recommendations for patient counseling and care at the centers of the GC-HBOC from the initial consultation prior to genetic testing to the use of individual risk-adapted preventive/therapeutic measures.

摘要

背景

德国遗传性乳腺癌和卵巢癌联盟(GC-HBOC)已建立了一个多基因检测板(TruRisk®),用于分析家族性乳腺癌和卵巢癌的风险基因。

总结

GC-HBOC的一个跨学科专家团队基于结构化文献检索并通过正式的共识过程,评估了这些基因中存在致病突变时风险改变的现有数据。

关键信息

这项工作的目标是更好地评估个体疾病风险,并在此基础上,从基因检测前的初次咨询到使用个体风险适应性预防/治疗措施,为GC-HBOC中心的患者咨询和护理得出临床建议。

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