Manipal Academy of Higher Education (MAHE), Manipal, 576104, Karnataka, India.
Institute of Bioinformatics, International Technology Park, Whitefield, Bangalore, 560066, Karnataka, India.
Funct Integr Genomics. 2024 Nov 4;24(6):206. doi: 10.1007/s10142-024-01484-y.
Breast cancer (BC) is the most commonly diagnosed cancer and the predominant cause of death in women. BC is a complex disorder, and the exploration of several types of BC omic data, highlighting genes, perturbations, signaling and cellular mechanisms, is needed. We collected mutational data from 9,555 BC samples using cBioPortal. We classified 1174 BC genes (mutated ≥ 40 samples) into five tiers (BCtier_I-V) and subjected them to pathway and protein‒protein network analyses using EnrichR and STRING 11, respectively. BCtier_I possesses 12 BC genes with mutational frequencies > 5%, with only 5 genes possessing > 10% frequencies, namely, PIK3CA (35.7%), TP53 (34.3%), GATA3 (11.5%), CDH1 (11.4%) and MUC16 (11%), and the next seven BC genes are KMT2C (8.8%), TTN (8%), MAP3K1 (8%), SYNE1 (7.2%), AHNAK2 (7%), USH2A (5.5%), and RYR2 (5.4%). Our pathway analyses revealed that the five top BC pathways were the PI3K-AKT, TP53, NOTCH, HIPPO, and RAS pathways. We found that BC panels share only seven genes. These findings show that BC arises from genetic disruptions evident in BC signaling and protein networks.
乳腺癌（BC）是最常见的癌症，也是女性死亡的主要原因。BC 是一种复杂的疾病，需要探索多种 BC 组学数据，突出基因、扰动、信号和细胞机制。我们使用 cBioPortal 从 9555 个 BC 样本中收集了突变数据。我们将 1174 个 BC 基因（突变 ≥ 40 个样本）分为五个层次（BCtier_I-V），并使用 EnrichR 和 STRING 11 分别对它们进行途径和蛋白质相互作用网络分析。BCtier_I 拥有 12 个突变频率 > 5%的 BC 基因，只有 5 个基因的突变频率 > 10%，即 PIK3CA（35.7%）、TP53（34.3%）、GATA3（11.5%）、CDH1（11.4%）和 MUC16（11%），接下来的七个 BC 基因是 KMT2C（8.8%）、TTN（8%）、MAP3K1（8%）、SYNE1（7.2%）、AHNAK2（7%）、USH2A（5.5%）和 RYR2（5.4%）。我们的途径分析显示，前五个 BC 途径是 PI3K-AKT、TP53、NOTCH、HIPPO 和 RAS 途径。我们发现 BC 面板仅共享七个基因。这些发现表明，BC 是由 BC 信号和蛋白质网络中明显的遗传破坏引起的。
