EGAS00001000092-7-sc-20160922 - samples

Recurrent breast cancer is almost universally fatal. We characterize 170 patients locally relapsed or distant metastatic cancers using massively parallel sequencing. We identify that the relapse-seeding clone disseminates late from the primary tumor. TP53 and AKT1 appear to be enriched in ER-positive cancers predisposed to relapse. Mutation acquisition continues at relapse as the same mutation signatures continue to operate and new signatures, such as that caused by radiotherapy appear de novo. In 49% of cases we identify drivers mutations private to the relapse and these are sampled from a wider range of cancer genes, including SWI-SNF complex and JAK-STAT signaling.EGA dataset EGAD00001002696

复发性乳腺癌几乎均为致命性疾病。本研究采用大规模并行测序（massively parallel sequencing）技术，对170例局部复发或远处转移性乳腺癌患者进行特征解析。研究结果显示，介导肿瘤复发的定植克隆从原发肿瘤中播散的时间较晚。TP53与AKT1基因在易复发的雌激素受体阳性（ER-positive）乳腺癌中呈现富集状态。复发阶段突变获取过程仍在持续：原有突变特征持续发挥作用，同时还会出现由放射治疗诱导的从头发生（de novo）的新型突变特征。在49%的病例中，我们鉴定出复发特异性驱动突变，这些突变来自涵盖SWI-SNF复合物（SWI-SNF complex）与JAK-STAT信号通路（JAK-STAT signaling）在内的更广泛的癌症基因家族。本研究使用的数据集为欧洲基因组学档案（EGA）数据集EGAD00001002696