Primary breast tumor heterogeneity through therapy

We performed whole-exome sequencing on multiple regions (n=2-3) from four primary untreated breast tumors (n=1 HER2+, n=2 ER+/HER2-, n=1 triple-negative), as well as matched normal. We also performed whole-exome sequencing on one region from the pre-treatment diagnostic core biopsy and multiple regions (n=2-6) from the post-treatment surgical specimen for five HER2+ primary breast tumors, as well as matched normal; all were treated with combination chemotherapy and trastuzumab. Analysis of these specimens allows characterization of breast tumor heterogeneity and clonal evolution.EGA study EGAS00001003168

本研究对4例未经治疗的原发性乳腺肿瘤的多个区域（n=2-3）及匹配的正常组织开展了全外显子组测序（whole-exome sequencing），其中HER2阳性（HER2+）、ER阳性/HER2阴性（ER+/HER2-）、三阴性乳腺癌病例分别为1例、2例、1例。此外，本研究还针对5例经联合化疗与曲妥珠单抗（trastuzumab）治疗的HER2阳性原发性乳腺肿瘤，分别采集其治疗前诊断性芯针活检标本的1个区域、治疗后手术标本的2-6个区域，并同步采集匹配的正常组织开展全外显子组测序。对上述标本进行分析，可解析乳腺肿瘤的异质性与克隆进化特征。本研究为EGA研究EGAS00001003168。