Somatic mutation

How it is used

Used mainly in cancer genetics, where tumors are sequenced to find somatic mutations that drive growth or guide treatment. Researchers compare tumor DNA with the patient's normal DNA ('tumor–normal' sequencing) to separate somatic variants from germline ones.

Example sentences

1. Somatic mutations in EGFR can make lung cancer respond to targeted drugs.

2. We sequenced matched blood samples to filter out germline variants and keep only somatic mutations.

Common collocations

• acquired somatic mutation
• somatic mutation rate
• tumor somatic mutations
• somatic variant

Related terms

• germlineThe line of reproductive cells, meaning eggs, sperm and the cells that produce them, through which DNA is passed to the next generation.
• mutationA permanent change in the DNA sequence. It may have no effect, cause disease or, occasionally, give an advantage.
• variant callingThe bioinformatics step that compares aligned reads with a reference genome to find where a sample's DNA differs, producing a list of variants.
• whole-genome sequencingSequencing nearly all of an organism's DNA, both the genes and the regions between them, in a single test.

More terms: Mutations and Genetic Variation

• variant
• point mutation
• SNP
• deletion
• frameshift mutation
• pathogenic
• copy number variation