Landscape of circulating tumour DNA in metastatic breast cancer
Landscape of circulating tumour DNA in metastatic breast cancer
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DOI：
10.1016/j.ebiom.2020.102914
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发表时间：
2020-08-01
期刊：
影响因子：
11.1
通讯作者：
Cristofanilli, Massimo
中科院分区：
文献类型：
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作者：
Davis, Andrew A.;Jacob, Saya;Cristofanilli, Massimo
背景资料：我们描述的基因组景观的循环肿瘤DNA（ctDNA）的病理亚型的转移性breastcancer.Methods：255例临床注释的ctDNA检测Guardant360被分层为HR+，HER2+，和TNBC队列。报告了改变的频率和异质性。对一部分患者的成对ctDNA和组织测序进行了比较。ctDNA和转移部位的疾病影像学assessed.Findings：89%的患者至少有一个ctDNA变异检测的关联。HR+患者最常见的单核苷酸变异（SNV）是PIK3CA、ESR1和TP53。对于HER2+，这些是TP 53、PIK3CA和ERBB 2，其中ERBB 2是最常见的拷贝数变体（CNV）。对于TNBC，最常见的SNV是TP53和PIK3CA，最常见的CNV是MYC、CCNE1和PIK3CA。与HR+或HER2+患者相比，TNBC患者具有显著更高的最高变体的突变等位基因频率（MAF）（P
Background: We describe the genomic landscape of circulating tumour DNA (ctDNA) across pathological sub-types of metastatic breast cancer.Methods: 255 clinically annotated patients with ctDNA testing by Guardant360 were stratified into HR+, HER2+, and TNBC cohorts. Frequency and heterogeneity of alterations were reported. Paired ctDNA and tissue sequencing were compared for a subset of patients. The association of ctDNA and metastatic sites of disease on imaging was also assessed.Findings: 89% of patients had at least one ctDNA alteration detected. The most common single nucleotide variants (SNVs) for HR+ patients were PIK3CA, ESR1, and TP53. For HER2+, these were TP53, PIK3CA, and ERBB2 with ERBB2 as the most frequent copy number variant (CNV). For TNBC, the most common SNVs were TP53 and PIK3CA, and the most frequent CNVs were MYC, CCNE1, and PIK3CA. TNBC patients had a significantly higher mutant allele frequency (MAF) of the highest variant compared to HR+ or HER2+ patients (P