Table 1.

Some essential genotypes with their function and mutation effect.

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