Actionable: A finding in the report that is tied to an FDA-approved treatment option or clinical trial.

Advanced Cancer: Stage 3 or Stage 4 cancer (also called “metastatic cancer”).

Alterations: Changes in the DNA that can influence cancer growth (also called “mutations”).

Amino Acid (AA): Amino acids are the monomers that makeup proteins.

Benign: Alterations with very strong evidence against pathogenicity. Targeted testing of at-risk family members not recommended. Medical management based on personal and family histories. Benign alterations are not routinely included in results reports.

Biomarker: A measurable characteristic within a cancer cell. The status of a biomarker may provide your doctor with information about potential treatment options. For example, the status of certain biomarkers can predict response to immunotherapy.

Biomarker Testing: You may also hear the testing referred to as genomic testing, tumor testing, molecular testing, next-generation sequencing (NGS), and genomic profiling. Biomarker testing is a general category of testing that looks for mutations in cancer genes to identify potential treatment options.

Circulating-tumor DNA (ctDNA): small DNA fragments that have come from your tumor and can be found circulating in your blood.

Clinical Trial: Process by which new potential treatments are studied and compared to existing treatment options. This can allow you to access the latest treatments that are in development.

Comprehensive Genomic Profiling (CGP): A method of genomic sequencing using a single test to assess hundreds of cancer-relevant genes and detect genomic alterations known to drive cancer growth. This type of genomic testing can be performed on multiple sample types.

Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals.

Deletion (DEL): Deletion is a type of mutation involving the loss of genetic material.

Diagnosis: The determination of a tumor type and stage of cancer.

DNA: The molecules inside cells that carry genetic information and pass it from one generation to the next. DNA instructs cells how to grow and divide; DNA mutations may lead to cancer growth.

Drugs in development: Drugs or a combination of drugs that are not approved for any cancer type by official administrations or agencies and still under clinical trials.

Copy Number Variant (CNV): is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals

EMA: The European Medicines Agency (EMA) is an agency of the European Union (EU) in charge of the evaluation and supervision of medicinal products.

ESMO: The European Society for Medical Oncology (ESMO) is the leading professional organization for medical oncology. With more than 25,000 members representing oncology professionals from over 150 countries worldwide, ESMO was founded in 1975

Food and Drug Administration (FDA): The official US government agency responsible for the review and approval of drugs and diagnostic tests to determine their safety and effectiveness for the intended use in patients.

Genes: Segments of DNA where mutations may be found with genomic testing.

Genomic Testing: You may also hear the testing referred to as biomarker testing, tumor testing, molecular testing, next-generation sequencing (NGS), and comprehensive genomic profiling. Genomic testing is a general category of testing that looks for mutations in the genes within your tumor to identify potential treatment options.

Genetic Testing: You may also hear the testing referred to as germline testing. Genetic testing looks at inherited mutations in all cells that can be passed on from your parents.

Germline Mutations: Mutations that can be found in all cells and can be inherited (passed on from your parents).

Hematologic Cancers: Blood cancers like leukemias and lymphomas.

Homologous recombination deficiency (HRD) is when your body is unable to repair double-strand breaks in DNA. This means that cancer cells have a harder time repairing themselves in people whose tumor tests positive for HRD.

Immunogram: The immunogram shows the potential response of each patient to immunotherapy. It is created by (1) the percentage of PD-L1 positive tumor cells, (2) the percentage of infiltrated CD8+ T cells, (3) the level of tumor mutational burden, (4) the presence or absence of MSI, and (5) the presence of mutations associated with either sensitivity or resistance to immunotherapy.

Immunotherapy: A type of cancer treatment that helps the body’s immune system attack cancer cells.

Incidental findings: Variants that have been detected unexpectedly during the molecular profiling and that might have clinical significance.

Inherited Mutations: Mutations that can be found in all cells and that can be passed on from your parents (also called “germline mutations”).

Insertion: Insertion is a type of mutation involving the addition of genetic material. An insertion mutation can be small, involving a single extra DNA base pair, or large, involving a piece of a chromosome.

Likely Pathogenic: Alterations with strong evidence in favor of pathogenicity. Targeted testing of at-risk family members and appropriate changes in medical management (i.e. high-risk surveillance) for VLP carriers recommended. A VLP is always included in results reports.

Likely Benign: Alterations with strong evidence against pathogenicity Targeted testing of at-risk family members not recommended. Medical management based on personal and family histories. A VLB is not routinely included in results reports.

Liquid Biopsy: This type of testing is performed on a blood sample instead of a tissue sample. It looks at DNA from your tumor that is circulating in your blood.

Loss of heterozygosity (LOH) is a cross chromosomal event that results in the loss of the entire gene and the surrounding chromosomal region.

Microsatellite Instability (MSI): A biomarker that may help predict benefits from immunotherapy. MSI refers to a type of instability in a tumor’s DNA.

Monitoring: A type of testing that looks for disease progression and how the body responds to treatment over time.

Mutations: Changes in the DNA that can influence cancer growth (also called “alterations”).

NCCN: National Comprehensive Cancer Network (Guidelines)

Pathogenic: A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, the development of symptoms is more likely, but not certain. Also called a deleterious mutation, disease-causing mutation, predisposing mutation, and susceptibility gene mutation.

Progression: The spread of cancer.

Solid Tumor Cancers: Cancers that start in tissue, like lung, breast, and colorectal cancer.

Somatic Mutations: Mutations that are found in cancer cells and which can lead to cancer growth. They are acquired and not inherited from a parent.

Single Nucleotide Polymorphism: A single-nucleotide polymorphism (SNP, pronounced snip) is a DNA sequence variation occurring when a single nucleotide adenine (A), thymine (T), cytosine (C), or guanine (G]) in the genome (or other shared sequence) differs between members of a species or paired chromosomes in an individual.

Single-nucleotide variant (SNV) is a variation in a single nucleotide. SNVs differ from SNPs in that a SNV can be somatic[9] and can be caused by cancer

Targeted Therapy: A type of cancer treatment that attacks cancer cells with specific gene mutations. Targeted therapies often come in the form of a pill.

Tissue: A part of the body where cancer can form.

Tier: Tier refers to the ACMG tiering system (Tier I , Tier II, Tier III, Tier IV)

TNM: The TNM system is the most widely used cancer staging system.

Tumor: A mass within the body caused by abnormal growth of cells.

Tumor Fraction: An estimate of the percentage of DNA found in your blood sample that is tumor DNA.

Tumor Mutational Burden (TMB): A biomarker that may help predict response to immunotherapy. TMB is a measure of the frequency of mutations in your tumor’s DNA.

Tumor Type: The type of cancer (e.g., lung cancer, breast cancer, etc.).

Turnaround Time (TAT): Amount of time to get test results.

Variants of Unknown Significance (VUS): Variants in this category may include somatic variants in cancer genes reported in the same or different cancer types with unknown clinical significance and variants in cancer genes that have not been reported in any cancers.

Wild type (WT): A gene when it is found in its natural, non-mutated (unchanged) form. Mutated (changed) forms of certain genes have been found in some types of cancer. Knowing whether a patient’s tumor has a wild-type or mutated gene may help plan cancer treatment.