biomarker (tumor marker), a measurable biological identifier that can predict medical phenomena such as how aggressively a cancer grows. There are several types of biomarkers including molecular, radiographic, and physiologic.

biomarker testing, a method to search for genes, proteins, and other substances (called biomarkers or tumor markers) that can provide information about cancer. Each person’s cancer has a unique pattern of biomarkers. Some biomarkers affect how certain cancer treatments work.

chromosomes, a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes

clinical research, medical research that involves enrolling volunteers to take part in studies (clinical trials) that monitor an individual’s progress during and after cancer treatment. The main purpose of clinical research is to test safety and efficacy of a selected drug. These studies help doctors and researchers learn more about specific diseases and find new medications or treatments to improve health care for people in the future.

gene signature or gene expression signature, a single or combined group of genes in a cell with a uniquely characteristic pattern of gene expression that demonstrates an altered or unaltered biological process or medical condition or disease

genetic testing, to examine one’s DNA, the chemical database that carries instructions for your body’s functions. Such testing can reveal changes (mutations) in genes that may cause illness or disease.

germline testing, sequenced-based genetic testing that is performed on a normal tissue, most often on blood or saliva, to detect a change in a gene or other regions in the DNA that affect all the cells of the body and could give rise to cancer

human genome, the entire set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes located in the cell’s nucleus.

ideal biomarker, An “ideal” biomarker includes all of the following 4 characteristics: 1) shows positive result for a specific type of cancer and negative result for all others (cancer-specific); 2) allows for treatment of that specific cancer; 3) is low cost to test; and 4) rapid results from the test.

karyotyping, a test that produces an image of the cancer cells’ chromosomes and allows the detection of large chromosomal abnormalities. It requires growing the cancer cells in culture and typically takes 1 to 2 weeks to result.

liquid biopsy or ctDNA, blood samples or fluids removed from a spinal tap used to detect genetic mutations in solid cancers

informed consent, a document that must be signed by a patient or parent if the child is under age 18 giving consent to perform any genetic testing including collecting all samples for the genetic testing. Before signing this informed consent, patient and family must be informed of risks, benefits and limitations of the test. If patient results are to be included in a clinical trial, the patient or parent must agree to the results to be included in the specific study and any future follow-up required.

minimal residual disease (MRD), a small number of cancer cells left in the body after treatment which have the potential to come back and cause relapse

Molecular Analysis for Therapy Choice (MATCH), Trial is an international pediatric precision medicine cancer treatment trial that explores whether targeted therapies can be effective for children, adolescents, and young adults with solid tumors that harbor specific gene mutations. Pediatric MATCH is a phase 2 trial that investigates different study drugs, each targeting a defined set of gene mutations, in order to match patients with therapies aimed at the molecular abnormalities in his or her tumor

molecular pathways, a group of genes that act together and contribute to the development or maintenance of a specific cancer

Philadelphia chromosome, a defect in chromosome 22 of leukemia cancer cells where part of the chromosome is amplified, deleted or fused to another chromosome; scientific name is BCR-ABL1 fusion gene

NTRK-fusion positive tumors/cancers, a group of pediatric tumors that can appear almost anywhere in the body, and therefore are difficult to make a diagnosis based solely on the cellular appearance

non-coding regions, DNA regions that do not contain genes

prognostic marker, a biomarker that helps predict the course of the disease and outcome

pathologist, a medical doctor with specialized training in identifying abnormal cells and cell activity

precision medicine, tailoring cancer therapy according to the genetic and molecular characteristics of the specific cancer by using genetics testing and molecular biomarkers

prognosis, a prediction of the probable course and outcome of the disease (how aggressive the tumor/cancer is) and the prospects of recovery

tissue banks, repositories that collect and store biological samples and associated clinical data

variant, a change in the normal sequencing of a gene