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Oncogene
A gene that when mutated or overexpressed promotes uncontrolled cell growth and proliferation
Proto-oncogene
A normal gene that regulates cell growth but can become an oncogene after mutation
Tumor suppressor gene
A gene that inhibits cell division or promotes apoptosis; loss-of-function mutations contribute to cancer
Gain-of-function mutation
A mutation that increases activity of a protein
Loss-of-function mutation
A mutation that reduces or eliminates protein function
Driver mutation
A mutation that directly contributes to cancer progression by providing growth advantage
Passenger mutation
A mutation that does not contribute to cancer progression but accumulates alongside driver mutations
Point mutation
A single nucleotide change that can activate oncogenes or inactivate tumor suppressors
Missense mutation
A mutation that changes one amino acid in a protein
Nonsense mutation
A mutation that introduces a premature stop codon
Silent mutation
A nucleotide change that does not alter the amino acid sequence
Frameshift mutation
An insertion or deletion that shifts the reading frame
Insertion mutation
Addition of nucleotides into DNA sequence
Deletion mutation
Removal of nucleotides from DNA sequence
Gene amplification
Increase in the number of copies of a gene
Chromosomal translocation
Rearrangement of parts between nonhomologous chromosomes
Fusion gene
A hybrid gene formed from two previously separate genes
Copy number variation
Changes in the number of copies of a gene that can affect gene expression
Epigenetic modification
Heritable changes in gene expression without altering DNA sequence
DNA methylation
Addition of methyl groups to DNA
Histone modification
Chemical changes to histone proteins affecting chromatin structure and gene expression
Loss of heterozygosity (LOH)
Loss of the normal allele in a heterozygous cell
Two-hit hypothesis
Concept that both alleles of a tumor suppressor gene must be inactivated for cancer to develop
Apoptosis
Programmed cell death that is often suppressed in cancer cells
Cell cycle checkpoint
Regulatory mechanism ensuring proper cell division; often disrupted in cancer
p53
A tumor suppressor protein that regulates cell cycle arrest and apoptosis in response to DNA damage
RB (Retinoblastoma protein)
A tumor suppressor that controls progression from G1 to S phase
RAS
A proto-oncogene encoding a GTPase involved in cell signaling; mutations lead to constant activation
MYC
A transcription factor oncogene that promotes cell growth and proliferation
Telomerase activation
Reactivation of telomerase in cancer cells allowing unlimited replication
Angiogenesis
Formation of new blood vessels to supply tumors with nutrients and oxygen
Metastasis
Spread of cancer cells from primary tumor to distant sites
Genomic instability
Increased tendency for mutations
DNA repair gene mutation
Defects in DNA repair mechanisms leading to accumulation of mutations
Carcinogen
A substance capable of causing cancer by inducing mutations
Clonal expansion
Growth of a population of cells derived from a single mutated ancestor
Tumor heterogeneity
Presence of genetically diverse cells within a tumor