【佳學基因靶向藥物基因檢測】人類表皮生長因子受體 2 陰性晚期乳腺癌伴或不伴 BRCA1/2 突變或未知 BRCA1/2 突變成年女性的治療模式、安全性和患者報告結(jié)果：來自美國的真實世界研究結(jié)果美國、英國和四個歐盟國家

基因血管檢測有用嗎分析

分析組織分子診斷與基因分析了解《Breast Care (Basel)》在?2022 Oct;17(5):460-469.發(fā)表了一篇題目為《》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Michael Patrick Lux,?Katie Lewis,?Alex Rider,?Alexander Niyazov等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調(diào)了基因信息檢測與分析的重要性。

腫瘤基因檢測及靶向藥物治療研究關鍵詞：

乳腺癌易感基因1或2狀態(tài),人表皮生長因子受體 2 陰性乳腺癌,患者報告的結(jié)果,聚（ADP-核糖）聚合酶抑制劑,真實世界的證據(jù)。

腫瘤治療檢測基因臨床應用結(jié)果

簡介：這項真實世界研究評估了乳腺癌易感基因 1 或 2 突變 (BRCA1/2mut) 狀態(tài)對人類表皮生長因子受體 2 陰性 (HER2) 女性的治療模式、安全性和患者報告結(jié)果 (PRO) 的影響-) 美國、英國和歐盟 4 個國家/地區(qū)的晚期乳腺癌 (ABC)。佳學基因解碼的途徑：腫瘤學家從 2015 年 2 月至 5 月以及 2017 年 3 月至 7 月出現(xiàn) HER2-ABC 的成年女性的病歷中提取數(shù)據(jù)。數(shù)據(jù)來自使用醫(yī)生報告表和患者報告表收集，其中包括關于乳腺癌病史/治療的問題以及來自 PRO 儀器的問題（EuroQol 5-Dimensions 3-Levels [EQ-5D-3L]，Brief Pain Inventory [BPI] ，歐洲癌癥研究與治療組織 [EORTC] 生活質(zhì)量問卷核心 30 及其乳腺癌模塊）。靶向藥物研究的客觀數(shù)據(jù)：總共有 742 名腫瘤學家提供了 6,161 名患者的數(shù)據(jù)； 27.5% 的人接受了 BRCA1/2mut 檢測。在總患者人群中，3.8% 有 BRCA1/2mut，16.6% BRCA1/2 野生型 (BRCA1/2wt)，79.5% BRCA1/2 未知 (BRCA1/2unk)。激素受體陽性 (HR+)/HER2-ABC 在 BRCA1/2wt 組與 BRCA1/2mut 組和三陰性乳腺癌 (TNBC) 在 BRCA1/2mut 與 BRCA1/2wt 組中更常見。 BRCA1/2mut 的 HR+/HER2- ABC 患者接受化療（有或沒有靶向治療或內(nèi)分泌治療）與 BRCA1/2wt 相比更多（66.0% 對 50.4%；p < 0.01）；更多的患者出現(xiàn) ≥1 次 AE（58.0% 與 39.1%；p < 0.001）。在 BRCA1/2mut 與 BRCA1/2wt 患者中，有明顯更高比例的患者有一些問題或更嚴重的疼痛不適 (p = 0.021) 和焦慮/抑郁 (p = 0.007)，如通過 EQ-5D-3L 測量； BRCA1/2mut 的 EORTC 測量的角色功能 (p < 0.01) 和呼吸困難 (p < 0.05) 更差。 BPI 的疼痛評分在各組之間相似。接受化療；有 >1 AE；與 BRCA1/2wt 患者相比，不適、焦慮和呼吸困難增加，角色功能下降。關鍵詞：乳腺癌易感基因 1 或 2 狀態(tài)；人表皮生長因子受體 2 陰性乳腺癌；患者報告的結(jié)果；聚（ADP-核糖）聚合酶抑制劑；真實世界的證據(jù)。

腫瘤發(fā)生與革命國際數(shù)據(jù)庫描述：

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.