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Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.PTEN 错构瘤肿瘤综合征患者的癌症监测指南。
Eur J Hum Genet. 2020 Oct;28(10):1387-1393. doi: 10.1038/s41431-020-0651-7. Epub 2020 Jun 12.
2
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.Li-Fraumeni 及可遗传性 TP53 相关癌症综合征指南。
Eur J Hum Genet. 2020 Oct;28(10):1379-1386. doi: 10.1038/s41431-020-0638-4. Epub 2020 May 26.
3
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.德国遗传性乳腺癌和卵巢癌联盟关于遗传性乳腺癌和卵巢癌风险基因种系序列变异分类的标准。
Geburtshilfe Frauenheilkd. 2020 Apr;80(4):410-429. doi: 10.1055/a-1110-0909. Epub 2020 Apr 21.
4
Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.Li-Fraumeni 综合征患者接受乳腺癌辅助放疗后放射性恶性肿瘤的发生频率。
Breast Cancer Res Treat. 2020 May;181(1):181-188. doi: 10.1007/s10549-020-05612-7. Epub 2020 Apr 3.
5
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.遗传性乳腺癌的管理：美国临床肿瘤学会、美国放射肿瘤学会和外科肿瘤学会指南。
J Clin Oncol. 2020 Jun 20;38(18):2080-2106. doi: 10.1200/JCO.20.00299. Epub 2020 Apr 3.
6
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.RAD51C 和 RAD51D 种系致病变异与卵巢癌和乳腺癌风险相关。
J Natl Cancer Inst. 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030.
7
The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort.胚系易感性基因突变对临床遗传检测队列中浸润性乳腺癌临床亚型的贡献。
J Natl Cancer Inst. 2020 Dec 14;112(12):1231-1241. doi: 10.1093/jnci/djaa023.
8
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.降低风险的输卵管卵巢切除术、自然绝经与乳腺癌风险：BRCA1 和 BRCA2 突变携带者的国际前瞻性队列研究。
Breast Cancer Res. 2020 Jan 16;22(1):8. doi: 10.1186/s13058-020-1247-4.
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Cancer Risks Associated With Germline Pathogenic Variants: An International Study of 524 Families.与生殖系致病性变异相关的癌症风险：一项对524个家庭的国际研究。
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10
Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.李-佛美尼综合征：诊断不再简单——低等位基因频率致病变异的解读及种系 PV、嵌合体和克隆性造血之间的差异。
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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.

DOI:10.1159/000516376
PMID:35702495
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9149395/
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。