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Biomarker Testing Journey among Patients with Advanced Solid Tumors and Treatment Patterns by Homologous Recombination Repair Status: A Clinico-Genomic Database Study

Advances in therapy(2024)SCI 3区SCI 4区

Merck & Co.

Cited 0|Views23
Abstract
Defects in the homologous recombination repair (HRR) pathway can include mutations in BRCA1 and BRCA2 (BRCAm) and other HRR genes (HRRm). These mutations are associated with a homologous recombination deficiency (HRD) phenotype. We evaluated testing journey and treatment patterns by BRCAm, HRRm, and HRD status in a real-world dataset. Deidentified data for patients who had undergone comprehensive genomic profiling using FoundationOne®CDx were collected through December 31, 2020, from a real-world multi-tumor clinico-genomic database (CGDB) capturing data from clinics in the United States. Patients eligible for inclusion in this analysis had a confirmed diagnosis with advanced or metastatic disease between January 1, 2018, and December 31, 2019, for 1 of 15 solid tumor types. Objectives were to evaluate patient treatment patterns by BRCAm, HRRm, and HRD status and to describe the timing of when (throughout disease course) comprehensive genomic profiling was performed. Among 9457 patients included in the overall population with evaluable biomarker status, 7856 (83.1
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BRCA1 and BRCA2 mutation,Homologous recombination deficiency,Homologous recombination repair mutation,Testing patterns,Treatment patterns
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要点】:本研究通过临床基因组数据库分析了晚期实体肿瘤患者中同源重组修复缺陷(HRD)的生物标志物检测过程和治疗模式,探讨了BRCA1/2突变和其他HRR基因突变与治疗模式的相关性。

方法】:研究采用回顾性队列研究方法,利用美国多家诊所提供的数据构建了一个包含15种实体肿瘤类型的临床基因组数据库(CGDB)。

实验】:实验数据来源于2020年12月31日前使用FoundationOne®CDx进行综合基因组分析的患者信息,共9457名患者的可评估生物标志物状态被纳入分析,其中7856名患者(83.1%)完成了相关检测。研究评估了BRCAm、HRRm和HRD状态患者的治疗模式,并描述了综合基因组分析在整个疾病过程中的实施时间。