【佳学基因靶向药物基因检测】人类表皮生长因子受体 2 阴性晚期乳腺癌伴或不伴 BRCA1/2 突变或未知 BRCA1/2 突变成年女性的治疗模式、安全性和患者报告结果：来自美国的真实世界研究结果美国、英国和四个欧盟国家

基因血管检测有用吗分析

分析组织分子诊断与基因分析了解《Breast Care (Basel)》在 2022 Oct;17(5):460-469.发表了一篇题目为《》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Michael Patrick Lux, Katie Lewis, Alex Rider, Alexander Niyazov等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤基因检测及靶向药物治疗研究关键词：

乳腺癌易感基因1或2状态,人表皮生长因子受体 2 阴性乳腺癌,患者报告的结果,聚（ADP-核糖）聚合酶抑制剂,真实世界的证据。

肿瘤治疗检测基因临床应用结果

简介：这项真实世界研究评估了乳腺癌易感基因 1 或 2 突变 (BRCA1/2mut) 状态对人类表皮生长因子受体 2 阴性 (HER2) 女性的治疗模式、安全性和患者报告结果 (PRO) 的影响-) 美国、英国和欧盟 4 个国家/地区的晚期乳腺癌 (ABC)。佳学基因解码的途径：肿瘤学家从 2015 年 2 月至 5 月以及 2017 年 3 月至 7 月出现 HER2-ABC 的成年女性的病历中提取数据。数据来自使用医生报告表和患者报告表收集，其中包括关于乳腺癌病史/治疗的问题以及来自 PRO 仪器的问题（EuroQol 5-Dimensions 3-Levels [EQ-5D-3L]，Brief Pain Inventory [BPI] ，欧洲癌症研究与治疗组织 [EORTC] 生活质量问卷核心 30 及其乳腺癌模块）。靶向药物研究的客观数据：总共有 742 名肿瘤学家提供了 6,161 名患者的数据； 27.5% 的人接受了 BRCA1/2mut 检测。在总患者人群中，3.8% 有 BRCA1/2mut，16.6% BRCA1/2 野生型 (BRCA1/2wt)，79.5% BRCA1/2 未知 (BRCA1/2unk)。激素受体阳性 (HR+)/HER2-ABC 在 BRCA1/2wt 组与 BRCA1/2mut 组和三阴性乳腺癌 (TNBC) 在 BRCA1/2mut 与 BRCA1/2wt 组中更常见。 BRCA1/2mut 的 HR+/HER2- ABC 患者接受化疗（有或没有靶向治疗或内分泌治疗）与 BRCA1/2wt 相比更多（66.0% 对 50.4%；p < 0.01）；更多的患者出现 ≥1 次 AE（58.0% 与 39.1%；p < 0.001）。在 BRCA1/2mut 与 BRCA1/2wt 患者中，有明显更高比例的患者有一些问题或更严重的疼痛不适 (p = 0.021) 和焦虑/抑郁 (p = 0.007)，如通过 EQ-5D-3L 测量； BRCA1/2mut 的 EORTC 测量的角色功能 (p < 0.01) 和呼吸困难 (p < 0.05) 更差。 BPI 的疼痛评分在各组之间相似。接受化疗；有 >1 AE；与 BRCA1/2wt 患者相比，不适、焦虑和呼吸困难增加，角色功能下降。关键词：乳腺癌易感基因 1 或 2 状态；人表皮生长因子受体 2 阴性乳腺癌；患者报告的结果；聚（ADP-核糖）聚合酶抑制剂；真实世界的证据。

肿瘤发生与革命国际数据库描述：

Introduction: This real-world study assessed the breast cancer susceptibility gene 1 or 2 mutation (BRCA1/2mut) status on treatment patterns, safety, and patient-reported outcomes (PROs) in women with human epidermal growth factor receptor 2-negative (HER2-) advanced breast cancer (ABC) in the USA, the UK, and EU4 countries.Methods: Oncologists abstracted data from medical charts of adult women who presented with HER2- ABC from February to May 2015 and from March to July 2017. Data were collected using a physician-reported form and a patient-reported form, which included questions on breast cancer history/treatment and questions from PRO instruments (EuroQol 5-Dimensions 3-Levels [EQ-5D-3L], Brief Pain Inventory [BPI], European Organisation for Research and Treatment of Cancer [EORTC] Quality of Life Questionnaire Core 30 and its breast cancer module).Results: In total, 742 oncologists provided data for 6,161 patients; 27.5% were tested for BRCA1/2mut. Out of the total patient population, 3.8% had BRCA1/2mut, 16.6% BRCA1/2 wild-type (BRCA1/2wt), and 79.5% were BRCA1/2 unknown (BRCA1/2unk). Hormone receptor-positive (HR+)/HER2- ABC was more frequent within the BRCA1/2wt versus BRCA1/2mut group and triple-negative breast cancer (TNBC) within the BRCA1/2mut versus BRCA1/2wt group. More patients with HR+/HER2- ABC with BRCA1/2mut received chemotherapy (with or without targeted or endocrine therapy) versus BRCA1/2wt (66.0% vs. 50.4%; p < 0.01); more patients had ≥1 AE (58.0% vs. 39.1%; p < 0.001). Among patients with BRCA1/2mut versus BRCA1/2wt, a significantly higher proportion had some problems or worse pain discomfort (p = 0.021) and anxiety/depression (p = 0.007) as measured by the EQ-5D-3L; role functioning (p < 0.01) and dyspnea (p < 0.05) measured by EORTC were worse with BRCA1/2mut. Pain scores by BPI were similar between groups.Conclusions: In patients with HER2- ABC in the real-world setting, more patients with BRCA1/2mut had TNBC; received chemotherapy; had >1 AE; and experienced increased discomfort, anxiety, and dyspnea and diminished role functioning versus patients with BRCA1/2wt.Keywords: Breast cancer susceptibility gene 1 or 2 status; Human epidermal growth factor receptor 2-negative breast cancer; Patient-reported outcomes; Poly (ADP-ribose) polymerase-inhibitor; Real-world evidence.

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