Cancer Genomics Glossary

Combined Positive Score, a PD-L1 scoring method including both tumor and immune cell expression.

Cell-free tumor DNA fragments circulating in the bloodstream that can be analyzed for cancer monitoring and diagnosis.

Deficient Mismatch Repair, indicating loss of function in DNA mismatch repair proteins.

The phenomenon where the effect of one genetic variant is modified or masked by the presence of variants in other genes...

A targeted enrichment technique that selectively isolates protein-coding sequences (exons) from genomic DNA prior to seq...

Formalin-fixed, paraffin-embedded tissue samples commonly used for histopathological examination and molecular analysis.

Fluorescence In Situ Hybridization, a molecular technique detecting specific DNA sequences in tissue samples.

An abnormal RNA molecule created when two normally separate genes are joined due to chromosomal rearrangement.

Systematic process of demonstrating that a genomic alteration reliably predicts clinical outcomes or treatment responses...

A hallmark of cancer characterized by increased frequency of mutations and chromosomal aberrations throughout the genome...

Patterns of chromosomal alterations that provide evidence of past DNA repair deficiencies, particularly homologous recom...

An inherited genetic alteration present in reproductive cells and therefore passed from parent to offspring.

Impaired ability to repair DNA double-strand breaks through the homologous recombination pathway, creating therapeutic v...

Genetic alteration occurring at a genomic position with high mutation frequency across multiple cancer samples.

Homologous Recombination Deficiency, a genomic instability pattern predictive of PARP inhibitor response.

The study of how genomic variations affect immune system function and response to cancer immunotherapy.

Laboratory technique using antibodies to detect specific proteins in tissue sections for cancer diagnosis and biomarker...

A localized hypermutation phenomenon characterized by clusters of C-to-T and C-to-G mutations occurring in close proximi...

A non-invasive diagnostic technique that analyzes circulating tumor DNA or other cancer biomarkers in blood samples.

A genomic event where one allele is deleted or altered, leaving only one functional copy of a gene.

A molecular phenotype resulting from defective DNA mismatch repair, characterized by length variations in repetitive DNA...

Cancer classification indicating normal DNA mismatch repair function and intact microsatellite sequences.

Small numbers of cancer cells that remain after treatment but are below the detection limit of conventional imaging or c...

A cellular condition where DNA mismatch repair mechanisms are impaired, leading to accumulation of mutations.