DNA mutations in cancer are heritable alterations in the nucleotide sequence of a cell's genome that contribute to malignant transformation by disrupting the normal control of growth, survival, and genome maintenance. They range from single-nucleotide substitutions and small insertions or deletions to large structur…
DNA mutations in cancer are heritable alterations in the nucleotide sequence of a cell's genome that contribute to malignant transformation by disrupting the normal control of growth, survival, and genome maintenance. They range from single-nucleotide substitutions and small insertions or deletions to large structural changes such as copy-number gains, deletions, and chromosomal rearrangements. Functionally, cancer-relevant mutations are distinguished as driver mutations, which confer a selective growth advantage, and passenger mutations, which accumulate without directly promoting tumour growth. Drivers typically activate oncogenes or inactivate tumour-suppressor genes; recurrent examples include loss-of-function variants in TP53 and BRCA1 and activating changes in signalling genes such as those of the Hedgehog pathway. Mutations may be somatic, arising in tissue during life from replication errors or carcinogen exposure, or germline, inherited and predisposing to familial cancer. Interpreting individual variants is a central challenge, particularly for variants of uncertain significance, and relies on functional, structural, and contextual analysis to distinguish pathogenic from benign changes. Characterising the mutational landscape of a tumour informs classification, prognosis, hereditary risk assessment, and the selection of targeted and personalised therapies, and underpins the use of specific alterations as molecular biomarkers in clinical oncology.
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