Cancer Genomics Glossary

Systematic evaluation of whether genomic findings can guide clinical decision-making based on available evidence and the...

A genetic alteration for which targeted therapy or specific treatment recommendations are available.

The percentage of reads containing a specific variant at a genomic position in a sequencing sample.

Deviation from the expected 50:50 ratio of maternal and paternal alleles, indicating copy number alterations or loss of...

Targeted sequencing method that amplifies and sequences specific genomic regions of interest in cancer samples.

The process of categorizing cancer patients into subgroups based on specific molecular markers to guide treatment decisi...

A phenotype resembling BRCA-mutated tumors in DNA repair deficiency and treatment sensitivity patterns.

College of American Pathologists guidelines that standardize molecular pathology reporting and quality assurance in canc...

Companion Diagnostic, an FDA-approved test required for specific targeted therapy patient selection.

A complex chromosomal rearrangement pattern involving chains of balanced translocations that can span multiple chromosom...

A cellular phenotype characterized by ongoing acquisition of chromosome-level alterations during cell division.

Genomic analysis technique that detects copy number variations and chromosomal imbalances across the genome.

A catastrophic chromosomal rearrangement event where localized chromosome shattering and random reassembly occurs in a s...

Analysis of genetic alterations in intact tumor cells isolated from peripheral blood to characterize tumor biology and m...

Clinical Interpretation of Variants in Cancer database providing crowdsourced curation of cancer variant clinical releva...

The degree to which genomic findings can guide specific clinical decisions or therapeutic interventions.

The process by which cancer cells acquire additional mutations over time, leading to tumor progression and treatment res...

Age-related expansion of blood cell clones carrying somatic mutations, which can confound cancer genomic testing and inc...

The rapid expansion of a single tumor clone that outcompetes other cellular populations, often following acquisition of...

Medical device that identifies patients eligible for specific targeted cancer therapies based on biomarker status.

Simultaneous analysis of multiple classes of genomic alterations across hundreds of cancer-related genes using next-gene...

Statistical comparison of genomic test results between different platforms, time points, or sample types to assess relia...

Alterations in the number of copies of specific DNA segments, including deletions and amplifications that can drive canc...

The Catalogue Of Somatic Mutations In Cancer database, a reference resource for cancer genomic variants.