Molecular features of gynecologic cancers have been investigated in comprehensive studies, but correlation of these molecular signatures with clinical significance for precision medicine is yet to be established. Towards this end, we evaluated 95 gynecologic cancer cases submitted for testing using The JAX ActionSeq™ NGS panel. Molecular profiles were studied and compared to TCGA datasets to identify similarities and distinguishing features among subtypes. We identified 146 unique clinically significant variants (Tier I and II) across 45 of the 212 genes (21%), in 87% (83/95) of cases. TP53, PTEN, ARID1A, PIK3CA and ATM were the most commonly mutated genes; CCNE1 and ERBB2 amplifications were the most frequently detected copy-number alterations. PARP inhibitors were among the most commonly reported drug class with clinical trials, consistent with the frequency of DNA damage-response pathway mutations in our cohort. Overall, our study provides additional insight into the molecular profiles of gynecologic cancers, highlighting regulatory pathways involved, raising the potential implications for targeted therapeutic options currently available.

妇科癌症的分子特征已经在综合研究中进行了研究，但是这些分子特征与精确医学的临床意义之间的相关性尚待建立。为此，我们评估了95例使用JAX ActionSeq™NGS小组进行测试的妇科癌症病例。研究了分子概况并将其与TCGA数据集进行比较，以鉴定亚型之间的相似性和区别特征。在87％（83/95）的病例中，我们在212个基因中的45个（21％）中鉴定了146个独特的临床上显着变异（I和II级）。TP53，PTEN，ARID1A，PIK3CA和ATM是最常见的突变基因。CCNE1和ERBB2扩增是最常检测到的拷贝数变化。PARP抑制剂是临床试验中最常报告的药物类别之一，与我们队列中DNA损伤反应途径突变的频率一致。总体而言，我们的研究提供了更多有关妇科癌症分子概况的见解，突出了所涉及的调节途径，提高了对目前可用的靶向治疗方案的潜在影响。