termsTerm
Mutation
aka mutations, mutated, mutant, mutants, genetic mutation, point mutation, point mutations, variant, variants, genetic alteration, genetic alterations, alteration, alterations
A change in the DNA sequence, like a typo in a recipe. Most are harmless; a few change a protein in a way that helps a cell grow out of control.
Mutations range from single-letter substitutions to insertions, deletions, and rearrangements of whole chromosome segments. They arise from copying errors, damage by chemicals or radiation, or faulty repair, and accumulate with age; a typical adult tumour carries thousands, of which only a handful actually drive the cancer. Clinically, a mutation is named by the gene and the change (EGFR L858R, KRAS G12C, BRAF V600E), and a growing number of drugs are approved specifically for tumours carrying one of them.
Category
Biology basics