Table 7.
Biological pathways for somatic changes studies showing putative association with ESCC in African populations.
| Gene | Full name | Pathway |
|---|---|---|
| AR | Androgen receptor gene | Regulation of gene expression and the protein functions as a steroid-hormone activated transcription factor. |
| CCND1 | Cyclin D1 | Regulators of CDK kinases and mitotic events. Mutations and overexpression of the gene has been associated with cancer development. |
| CDKN2A | Cyclin dependent kinase inhibitor 2A | A tumor suppressor gene which regulates the cell cycle. Commonly inactivated in a variety of tumors. |
| CHEK2 | ||
| COL1A2 | Collagen type I, alpha 2 chain | Encodes for type I collagen, which is an abundant connective tissue protein and part of extracellular matrix. |
| EFGR | Epidermal growth factor receptor | Encodes for the growth factor epidermal growth factor receptor. |
| EP300 | E1A binding protein p300 | Encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein which functions in transcription regulation. Mutations have been implicated in tumorigenesis. |
| FAT1/2/3/4 | FAT atypical cadherin 1/2/3/4 | Human homologues of the Drosophila FAT genes. Putative tumor suppressor involved in cell proliferation during Drosophila development. |
| FBXW7 | F-box and WD repeat domain containing 7 | Encodes an F-Box protein which binds directly to cyclin E and potentially targets cyclin E for ubiquitin-mediated degradation. |
| JAG1 | Jagged 1 | Encodes for the human homolog of the Drosophila jagged 1 protein which is involved in hematopoiesis. |
| KMT2C (MLL3) | Lysine methyltransferase 2C | The gene is member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family. It encodes a nuclear protein involved in transcriptional regulation. |
| KMT2D (MLL2) | Lysine methyltransferase 2D | Methylation of histones and transcriptional regulation. |
| Mismatch repair genes | Mismatch repair genes | DNA repair. Mutations have been implicated in cancer. |
| MUC2 | Mucin 2, oligomeric mucus/gel-forming | Formation of insoluble mucous barrier that protects the gut lumen. |
| NFE2L2 | Nuclear factor, erythroid 2 like 2 | Encodes for proteins involved in response to inflammation including free radical production. |
| NOTCH1 | NOTCH1 | Development of cell and tissue. Mutations have been reported to be linked with tumorigenesis. |
| NOTCH3 | NOTCH3 | The third discovered human homologue of the Drosophila melanogaster type I membrane protein notch. Involved in intercellular signaling pathways in neural development. |
| PIK3CA | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Oncogenic and implicated in cancer development. |
| Ras genes | Rat sarcoma | Regulation of cell signaling pathways, and cell growth and death. |
| SERPINB4 | Serpin family B member 4 | Inactivation of granzyme M, an enzyme that kills tumor cells. Highly expressed in tumor cells. |
| TP53 | Tumor protein p53 | Regulates transcription, expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Implicated in a number of cancers. |
| TP63 | Tumor protein p63 | Involved in the following processes in skin development and maintenance, adult stem/progenitor cell regulation, heart development, and premature aging. |