Table 1. Summary of BLCA genes in two validation cohorts.
| Gene | Early stage | Late stage (immunotherapy) | Description |
|---|---|---|---|
| TOP3A | HR > 0 (PFS), high grade, high EORTC | HR = 0 (OS), enriched in stage IV, enriched in CR/PR | Catalyses the transient breaking and rejoining of a single strand of DNA, involved in regulation of recombination and homology-directed repair. Positive association to OS in OV (de Nonneville et al., 2022) |
| RBMX | HR < 0 (PFS), low grade, low EORTC | HR > 0 (OS), enriched in CR/PR | Associated with translational control and DNA damage pathways. Reported to be negatively correlated with tumor stage, histological grade, and poor patient prognosis in BLCA (Song et al., 2020) |
| POTEI | HR = 0 (PFS) | HR = 0 (OS) | POTE family of proteins is associated with apoptotic cells (Yu et al., 2023) |
| KRT17 | HR < 0 (PFS), low grade, low EORTC |
HR > 0 (OS), enriched in stages I–III, enriched in SD/PD | Associated with structural molecule activity and MHC class II receptor activity. Associated with metastasis and angiogenesis in variety of tumor types (Ji et al., 2021) |
| WIPI2 | HR = 0 (PFS), high grade | HR > 0 (OS), enriched in CR/PR | Component of the autophagy machinery that controls the major intracellular degradation process. WIPI2 is suggested as a biomarker for predicting colorectal cancer prognosis (Yu et al., 2023) |
| MRRF | HR = 0 (PFS), low grade |
HR > 0 (OS) | Associated with the ribosome recycling factor, which is a component of the mitochondrial translational machinery. High expression is associated with poor outcome in ovarian cancer (Song et al., 2020) |
| EIF3B | HR = 0 (PFS), high EORTC | HR > 0 (OS) | Eukaryotic translation initiation factor 3 subunit B is a promoter associated with pancreatic cancer (de Nonneville et al., 2022) |
| JUP | HR = 0 (PFS) | HR > 0 (OS), enriched in stages I–III |
Common junctional plaque protein. Controversial role in different malignancies. Knockdown of JUP in epithelium-like GC cells causes EMT and promotes GC cell migration and invasion (Chen et al., 2021) |
| WTAP | HR <0 (PFS), low EORTC, low grade |
HR = 0 (OS) | Wilms’ tumor 1-associating protein is associated to RNA methylation modifications, which regulate biological processes such as RNA splicing, cell proliferation, cell cycle, and embryonic development (Chen et al., 2021) |
| COL7A1 | HR = 0 (PFS) | HR > 0 (OS), enriched in SD/PD |
Associated with metabolism of proteins and integrins in angiogenesis. Aberrant gene expression is associated with distinct tumor environment, metastasis and survival in multiple cancer types (Oh et al., 2021) |