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Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.遗传/家族性高风险评估:乳腺癌、卵巢癌和胰腺癌,第 2.2021 版,NCCN 肿瘤学临床实践指南。
J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
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Talazoparib versus chemotherapy in patients with germline BRCA1/2-mutated HER2-negative advanced breast cancer: final overall survival results from the EMBRACA trial.他拉唑帕尼与化疗治疗胚系BRCA1/2突变的HER2阴性晚期乳腺癌患者:EMBRACA试验的最终总生存结果
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Outcomes in Clinically Relevant Patient Subgroups From the EMBRACA Study: Talazoparib vs Physician's Choice Standard-of-Care Chemotherapy.EMBRACA研究中临床相关患者亚组的结果:他拉唑帕尼对比医生选择的标准化疗。
JNCI Cancer Spectr. 2019 Oct 21;4(1):pkz085. doi: 10.1093/jncics/pkz085. eCollection 2020 Feb.
4
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.
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International Consensus Conference for Advanced Breast Cancer, Lisbon 2019: ABC5 Consensus - Assessment by a German Group of Experts.2019年里斯本晚期乳腺癌国际共识会议:ABC5共识——德国专家组评估
Breast Care (Basel). 2020 Feb;15(1):82-95. doi: 10.1159/000505957. Epub 2020 Feb 10.
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Talazoparib in Patients with a Germline BRCA-Mutated Advanced Breast Cancer: Detailed Safety Analyses from the Phase III EMBRACA Trial.在携带胚系 BRCA 突变的晚期乳腺癌患者中使用他拉唑帕尼:来自 III 期 EMBRACA 试验的详细安全性分析。
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Patient-reported outcomes in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer receiving olaparib versus chemotherapy in the OlympiAD trial.OlympiAD 试验中,接受奥拉帕利与化疗治疗的胚系 BRCA 突变型和 HER2 阴性转移性乳腺癌患者的报告结局。
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德国晚期乳腺癌患者常规胚系突变检测的知晓率和可及性

Awareness and Availability of Routine Germline Mutation Testing in Patients with Advanced Breast Cancer in Germany.

作者信息

Lux Michael P, Decker Thomas, Runkel Eva Diana, Niyazov Alexander, Quek Ruben G W, Marschner Norbert, Harbeck Nadia

机构信息

Kooperatives Brustzentrum Paderborn, Paderborn, Germany.

St. Josefs-Krankenhaus, Salzkotten, Germany.

出版信息

Breast Care (Basel). 2022 Feb;17(1):40-46. doi: 10.1159/000513596. Epub 2021 Feb 18.

DOI:10.1159/000513596
PMID:35350106
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8914189/
Abstract

INTRODUCTION

Diagnostic testing of germline mutations in or (g) in patients with human epidermal growth factor receptor 2 negative (HER2-) advanced breast cancer (ABC; locally advanced or metastatic breast cancer) is necessary to assess eligibility for poly(ADP-ribose) polymerase inhibitors (PARPi). We investigated awareness, clinical practice, and the availability of g mutation testing in the German outpatient oncology setting.

METHODS

Office-based oncologists completed a 23-item online survey. Responses were evaluated collectively and by center type.

RESULTS

Of 50 oncologists, 33 and 17 were medical and gynecological oncologists, respectively. Oncologists treated a median of 65 (range 14-350) patients with ABC per year. The strongest decision factors to initiate g mutation testing were: patient's known family history of g mutation-related cancer(s), guideline recommendations, and triple-negative breast cancer (TNBC). In routine practice, 86% of oncologists tested for g mutations. Most oncologists (76-98%) reported testing patients with a known family history of g mutation-related cancer(s) irrespective of receptor status. For unknown family history, 92% of oncologists reported testing patients with advanced TNBC versus 30% for HR+/HER2- ABC. Oncologists (66%) rated the awareness of therapeutic relevance of g mutation testing for targeted treatment selection as good to satisfactory; 22% rated awareness as poor to in-sufficient.

CONCLUSION

Diagnostic g mutation testing in patients with HER2- ABC is available and routinely performed in Germany's outpatient oncology setting. However, specific patient subgroups were not routinely tested despite therapeutic indications. Given PARPi availability, opportunities exist to improve testing rates especially for patients with HR+/HER2- ABC without a known family history of g mutation-related cancer(s).

摘要

引言

对于人表皮生长因子受体2阴性(HER2-)的晚期乳腺癌(ABC;局部晚期或转移性乳腺癌)患者,检测胚系BRCA1或BRCA2(gBRCA)突变对于评估聚(ADP-核糖)聚合酶抑制剂(PARPi)的适用性是必要的。我们调查了德国门诊肿瘤学环境中对gBRCA突变检测的认知、临床实践及可及性。

方法

以办公室为基础的肿瘤学家完成了一项包含23个条目的在线调查。对回复进行了总体评估及按中心类型的评估。

结果

50名肿瘤学家中,分别有33名和17名是医学肿瘤学家和妇科肿瘤学家。肿瘤学家每年治疗ABC患者的中位数为65例(范围14 - 350例)。启动gBRCA突变检测的最强决策因素为:患者已知的gBRCA突变相关癌症家族史、指南推荐以及三阴性乳腺癌(TNBC)。在常规实践中,86%的肿瘤学家检测gBRCA突变。大多数肿瘤学家(76 - 98%)报告称,无论受体状态如何,都会对已知有gBRCA突变相关癌症家族史的患者进行检测。对于未知家族史的患者,92%的肿瘤学家报告对晚期TNBC患者进行检测,而HR+/HER2- ABC患者的检测比例为30%。肿瘤学家(66%)认为gBRCA突变检测对靶向治疗选择的治疗相关性认知良好至满意;22%认为认知较差至不足。

结论

在德国门诊肿瘤学环境中,HER2- ABC患者的诊断性gBRCA突变检测是可行且常规进行的。然而,尽管有治疗指征,特定患者亚组并未常规检测。鉴于PARPi的可及性,存在提高检测率的机会,尤其是对于没有已知gBRCA突变相关癌症家族史的HR+/HER2- ABC患者。