Precision Oncology Glossary

The degree to which a molecular finding can inform specific therapeutic interventions or clinical decisions.

A genetic alteration for which targeted therapies are available or under development.

A genetic alteration for which there is an available targeted therapy or clinical trial, directly influencing treatment...

Molecular technique that selectively amplifies specific genetic variants to detect point mutations in tumor DNA.

The proportion of sequencing reads containing a specific variant compared to total reads at that genomic position.

An increase in gene copy number that can lead to overexpression of oncogenes, often detected through molecular testing a...

A clinical trial design that enrolls patients based on shared molecular characteristics rather than cancer type.

The process of dividing patients into subgroups based on molecular characteristics to guide treatment decisions.

Clinical research designed to confirm the predictive or prognostic value of molecular markers in cancer treatment.

A clinical study that uses molecular characteristics to determine patient eligibility and treatment assignment.

The normal, unmutated form of BRCA1 or BRCA2 genes, indicating intact homologous recombination repair capacity.

Chimeric antigen receptor T-cell therapy using genetically modified immune cells to target cancer.

A quantitative measure of genome-wide chromosomal alterations that influences treatment sensitivity and prognosis.

Structural alterations in chromosome organization including translocations, inversions, and deletions that can create on...

DNA fragments shed by tumor cells that circulate in the bloodstream and can be detected through liquid biopsy techniques...

Longitudinal molecular assessment tracking how tumor cell populations change over time and treatment pressure.

Age-related expansion of blood cell clones carrying somatic mutations, which can complicate interpretation of circulatin...

A medical device used to identify patients who are most likely to benefit from a particular therapeutic product.

Genomic changes involving the gain or loss of DNA segments, affecting gene dosage and potentially driving cancer progres...

Circulating tumor DNA fragments released by cancer cells into the bloodstream.

A genetic alteration that directly contributes to cancer development and progression by providing growth advantage to ce...

Formalin-fixed paraffin-embedded tissue samples used for molecular testing in oncology. Critical specimen type for edito...

Fluorescence in situ hybridization test used to detect chromosomal aberrations and gene amplifications in tumor samples.

A genetic alteration that shifts the reading frame of protein translation, typically resulting in a truncated, nonfuncti...