已经对乳腺癌（BC）患者的结构变异（SV）进行了基因组分析，但基因组改变与 BC 预后之间的关系仍不清楚。我们对 297 个 BC 早期新鲜冷冻组织进行了 RNA 测序。我们使用三种工具（STAR.Arriba、STAR.fusion 和 STAR.SEQR）识别 SV，并以 COSMIC 和 Mitelman 数据库作为指导参考。我们发现每个样本平均有五到八个融合。在 BC 内在亚型中，正常亚型的融合最少（中位数：1，四分位距 [IQR]：0、3），其次是 luminal A（中位数：5.5，IQR：2.75、10.25）、luminal B（中位数：9，IQR） ：6, 16.5）、HER2 富集（中位数：9，IQR：6, 16.5）和基础（中位数 10，IQR：6, 15.5）亚型（p< 0.05）。染色体内融合比染色体间融合更常见。从位置上看，17号染色​​体融合最多，其次是1号和11号染色体。当根据11个融合的截止值将样本分为高融合组和低融合组时，五年无事件生存率（5Y-EFS）为高融合组 (n = 72) 中为 68.1%，低融合组 (n = 125) 中为 80.1% (p = 0.024)，而所有患者中为 75.6%（95% 置信区间：0.699、0.819）。在 BC 亚型中，融合较多的 TNBC 与融合较少的 TNBC 相比，EFS 较短（5Y-EFS 率：65.1% vs. 85.7%；p = 0.013），但在其他 BC 亚型中未观察到 EFS 差异。估计 ImmuneScore 还与 TNBC 中的融合数量相关 (p < 0.005)，并且与 ImmuneScore 低的 TNBC 相比，具有高 ImmuneScore 的 TNBC 具有更好的 5Y-EFS (p = 0.041)。总之，根据 BC 亚型观察到不同的融合，并且融合数量与 TNBC 中的 BC 生存结果和免疫状态相关。© 2024。作者。

Genomic analysis of structural variants(SVs) in breast cancer (BC) patients has been conducted, but the relationship between genomic alterations and BC prognosis remains unclear. We performed RNA sequencing of 297 early BC fresh-frozen tissues. We identified SVs using three tools (STAR.Arriba, STAR.fusion, and STAR.SEQR) with the COSMIC and Mitelman databases as guide references. We found a median of five to eight fusions per sample. In BC intrinsic subtypes, normal subtype had the fewest fusions (median: 1, interquartile range [IQR]: 0, 3) followed by luminal A (median: 5.5, IQR: 2.75, 10.25), luminal B (median: 9, IQR: 6, 16.5), HER2-enriched (median: 9, IQR: 6, 16.5) and basal (median 10, IQR: 6, 15.5) subtypes (p < 0.05). Intrachromosomal fusion was more frequent observed rather than interchromosomal fusion. In location, chromosome 17 had the most fusions followed by chromosome 1 and 11. When samples were divided into high and low fusion groups based on a cut-off value of 11 fusions, five-year event-free survival (5Y-EFS) was 68.1% in the high fusion group (n = 72) and 80.1% in the low fusion group (n = 125) (p = 0.024) while 75.6% among all patients (95% confidence interval: 0.699, 0.819). Among BC subtype, TNBCs with more fusions had shorter EFS compared to those with fewer fusions (5Y-EFS rate: 65.1% vs. 85.7%; p = 0.013) but no EFS differences were observed in other BC subtypes. ESTIMATE ImmuneScore was also associated with the number of fusions in TNBC (p < 0.005) and TNBCs with high ImmuneScore had better 5Y-EFS compared to those with low ImmuneScore (p = 0.041). In conclusion, diverse fusions were observed by BC subtype, and the number of fusions was associated with BC survival outcome and immune status in TNBC.© 2024. The Author(s).