Cancer Genomics Glossary

The range of drug concentrations or genomic biomarker levels that provide clinical benefit without unacceptable toxicity...

Tumor Mutational Burden-High, indicating elevated mutation density that may predict immunotherapy response.

Tumor Proportion Score, measuring the percentage of tumor cells expressing PD-L1 protein.

Secondary mutations that arise during treatment to circumvent the effects of targeted therapy or immune surveillance.

The temporal sequence of genomic changes that occur during cancer development, progression, and treatment response.

A quantitative metric that summarizes the overall burden of genomic alterations and chromosomal instability within a tum...

The comprehensive pattern of genetic alterations characteristic of a specific cancer type or individual tumor sample.

A comprehensive molecular characterization of a cancer specimen documenting genetic alterations including mutations, cop...

The genetic and phenotypic diversity present within a single tumor or between different tumor sites in the same patient.

Comprehensive molecular characterization of the cellular and acellular components surrounding tumor cells that influence...

The total number of mutations per megabase of DNA in a tumor sample, used as a biomarker for immunotherapy response.

The comprehensive pattern of genetic alterations present across a tumor specimen or cancer type.

A characteristic pattern of mutations that reflects specific mutagenic processes active during tumor development.

The evolutionary tree reconstruction showing the temporal sequence of mutations and clonal relationships within a tumor'...

The percentage of cancer cells relative to normal cells in a tissue sample used for genomic analysis.

Evaluation of the percentage of cancer cells versus normal cells in a tissue specimen for genomic analysis.

A gene whose loss of function or inactivation removes normal constraints on cell growth and contributes to cancer develo...

A condition where loss of one functional copy of a tumor suppressor gene reduces cellular growth control below the thres...

Personalized surveillance strategy using patient-specific tumor genomic alterations to detect circulating tumor DNA and...

The analytical approach of comparing genomic data from tumor tissue with matched normal tissue from the same patient.

Variant Allele Frequency, the proportion of sequencing reads supporting a specific genomic variant.

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

The process of adding biological and clinical information to genetic variants identified through sequencing.

The systematic categorization of genetic variants based on their clinical significance and supporting evidence.