Cancer Genomics Glossary

Submicroscopic cancer cells detected through sensitive molecular techniques after treatment when imaging shows complete...

Multidisciplinary clinical meeting to review genomic testing results and develop precision medicine treatment plans.

Categorization of cancers based on their genomic and transcriptomic features rather than traditional histopathological a...

Microsatellite Instability-High, a genomic phenotype indicating defective DNA mismatch repair.

Computational process of identifying the relative contributions of different mutational processes to the overall mutatio...

A novel protein fragment created by tumor-specific mutations that can be recognized by the immune system.

Next-generation sequencing technologies that enable rapid, high-throughput analysis of DNA and RNA sequences.

A gene whose activation or overexpression can contribute to malignant transformation and cancer development.

The phenomenon where tumor cells become dependent on continued oncogene activity for survival and proliferation, despite...

A chimeric protein resulting from chromosomal rearrangements that combines functional domains from different genes to dr...

A precision oncology knowledge base that annotates the biological and clinical relevance of cancer variants.

Targeted next-generation sequencing of a predefined set of cancer-related genes using capture-based enrichment.

A genetic alteration that causes or predisposes to disease based on established clinical and functional evidence.

Programmed Death-Ligand 1 immunohistochemistry testing to assess immune checkpoint protein expression.

The relationship between genomic alterations and drug efficacy, toxicity, or metabolism that influences treatment respon...

The study of how genetic variations affect individual responses to cancer drugs and treatment outcomes.

Comprehensive genomic testing document that integrates molecular findings with treatment recommendations for cancer care...

Quantitative Polymerase Chain Reaction, a molecular technique for detecting and quantifying specific DNA sequences.

A genetic alteration that enables cancer cells to survive and proliferate despite targeted therapy treatment.

RNA sequencing technology that analyzes gene expression patterns and identifies fusion transcripts in cancer samples.

A genetic alteration that occurs in non-reproductive cells during a person's lifetime, often associated with cancer deve...

Alternative forms of mRNA produced from the same gene through different splicing patterns, often relevant in cancer path...

Secondary genetic alterations that emerge during treatment to confer resistance to targeted therapy or immunotherapy.

A clinical document that translates tumor genomic findings into actionable treatment recommendations with supporting evi...