Table 1.
SN | Genotype | Function | Mutation Effect | Prominent Cancers |
---|---|---|---|---|
1 | TP53 (p53) [46] | Tumor suppressor gene, Initiating apoptosis, DNA repair | Genetic instability, reduced apoptosis, angiogenesis | Breast, brain, bone, leukemia, lung |
2 | IDH1, IDH2 [78] | Control citric acid cycle | Loss of normal enzymatic function | Leukemia, bone, brain, prostate |
4 | MGMT [79] | Coding for a protein that repairs DNA | Reduces binding of transcription factors and decreases gene expression; cause of glioblastomas | Brain |
5 | EGFR and PTEN [80] | Protein on cells helps them grow | Tumorigenesis of glioblastoma; predictor of poor survival | Brain, lung |
6 | ER/PR [81] | Transcription of millions of genes leads to cell proliferation | Mammary gland development and cell proliferation | Breast |
7 | RB1 [82] | Tumor suppressor | Blocks cell-cycle progression | Retina, brain |
8 | Histone H3 [83] | DNA repair | Poor prognosis | Brain, bone |
9 | ATRX [84] | Protein formation for normal development | Intellectual disability, genital abnormalities, hypotonia, facial disorder | Brain |
10 | BRAF [85] | Encode B-Raf protein | Melanoma and colorectal cancer | Skin, colon |
11 | HER2 [86] | Control cell growth | Breast, bladder, ovarian, pancreatic, and stomach cancers | Breast, ovarian, pancreas, lung |
12 | Ki-67 [87] | Cell proliferation, Prevent aggregation of mitotic chromosomes |
Inhibition of ribosomal RNA; synthesis; prostate, brain, and breast carcinomas, nephroblastoma, and neuroendocrine tumors | Prostate, brain, breast, kidney |
13 | PD-L1 IHC [88] | Controls the induction and maintenance of immune tolerance within the tumor microenvironment | Squamous cell carcinoma | Skin |
14 | NF1 [89] | Production of neurofibromin protein for cell growth | Deprivation of neurofibromin only causes uncontrolled cell growth | Skin, nervous system |
15 | MYB family [90] | Proliferation and differentiation of hematopoietic progenitor cells | Deletion in the C-terminal domain that causes cancer | Leukemia, glioma |
16 | BRCA1 and BRCA2 [91] | Repair damaged DNA and tumor suppressor | Abnormal cell growth, which can lead to cancer | Breast, ovarian |
17 | CDKN2A/B Family [92] |
Produce the p14(ARF) and p16(INK4A) proteins. | 40% of melanoma, 95% of pancreatic tumors |
Melanoma, glioblastoma, and pancreatic |
18 | MSH2, MSH6, and MLH1 [93] | Repair damaged DNA and tumor suppressor | Lynch syndrome; complete loss of MSH6 protein production. | Colon |
19 | CDH1 [94] | Produce protein called epithelial cadherin or E-cadherin | Hereditary diffuse gastric cancer (HDGC) | Gastric |
20 | KRAS [95] | Making a protein called K-Ras | 32% of lung cancers; 85% to 90% of pancreatic cancer; 40% of colorectal cancers, | Lung, pancreatic, colorectal |
21 | PBRM1 [96] | Tumor suppressor, chromatin remodeling |
40% of clear cell renal cell carcinoma (ccRCC) | Kidney |
22 | TERT [96] | Produce enzyme called telomerase; protect from chromosome degrading | Potential as biomarkers of various cancer | Brain, melanoma, leukemia |
23 | SMARCB1 [97] | Chromatin remodeling | Coffin–Siris syndrome (CSS) | Brain and kidney |
24 | PDGFRA [98] | Produce protein PDGFRA | Amino acid residue changes | Gastric |