Glossary

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B

Bioinformatics
The use of computing tools to manage and analyze genomic and molecular biological data.

Biospecimen
Also known as biological material, this is a general term that applies to any material taken from a person (typically blood or tissue samples).

Biotechnology
A set of biological techniques developed through basic research and now applied to research and product development.

C

caBIG™
The cancer Biomedical Informatics Grid, or caBIG™, is the network or grid connecting individuals and institutions involved with cancer research to enable them to share data and computer tools. caBIG™ is an initiative supported by the National Cancer Institute, National Institutes of Health. 

Chromosomal Rearrangements
Structural alterations in the native structure of a chromosome resulting from the breakage and rejoining of two separate parts of a chromosome.

Chromosome
One of the threadlike "packages" of genes located in the nucleus of a cell. Humans have 23 pairs: 46 chromosomes; 44 autosomes, and an X and Y chromosome.

Chromosome Translocation
Breakage and removal of a large segment of DNA from one chromosome, followed by the segment's attachment to a different chromosome.

Clinical Candidates
Drugs that are being tested in clinical trials but are not yet approved by the Food and Drug Administration. 

Cytogenetics
The analyses of chromosomal  number and structure.

D

DNA
The chemical inside the nucleus of a cell that carries the genetic instructions, or code, for making and maintaining living organisms. DNA consists of two long chains of chemical groups or bases, twisted together in pairs to form a double helix. The bases are the "letters" that spell out the genetic code. In DNA, the code letters are A, T, G, and C which stand for the chemicals adenine, thymine, guanine, and cytosine, respectively.

DNA Sequencing
Determination of the order of bases in a DNA molecule.

E

Epigenetics
The study of heritable changes in gene function that occur without a change in the DNA sequence.

F

Fusion Gene
A hybrid gene created from the joining of two separate genes through the deletion or inversion of part of a chromosome or translocation.

G

Gene
The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.

Gene Expression
The process by which proteins are made by genes from the instructions encoded in DNA.

Genetics
The study of genes and their effects on inheritance of specific traits and on other biological processes.

Genome
The complete genetic material of an organism—the entire DNA contained in an organism or a cell, which includes both the chromosomes within the cell nucleus and the DNA in cell mitochondria.

H

Histone Proteins 
Proteins that are part of a large protein complex that pack DNA into compact structures, called chromatin.

Hypodiploid
A somatic cell with fewer than the normal 46 chromosomes

M

Mutation
Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or can be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. Certain mutations may lead to cancer or other diseases.

N

Nonsynonymous Mutation
A mutation in a gene that results in a change to an amino acid sequence of the gene product (i.e. protein). Depending on the mutation and its location in the gene, these types of mutations have the potential to affect the function of the protein.

O

Oncogene 
A gene, typically involved with normal cell growth, that may contribute to cancer initiation and progression when mutated.

P

Point Mutation
Change of a single nucleotide.

Polymorphism
A common variation in the sequence of DNA among individuals.

S

Somatic Cell Genetic Mutation
A mutation that is neither inherited nor passed to offspring. Also called acquired mutations.

T

Targeted (Cancer) Therapy
Targeted cancer therapies use drugs that block the growth and spread of cancer by interfering with specific molecules involved in carcinogenesis (the process by which normal cells become cancer cells) and tumor growth.

Translational Research
Translation of novel findings obtained from basic research laboratories into testable hypotheses for evaluation in clinical trials in human subjects.

Tumor Suppressor Gene
A gene that codes for a protein that plays a role in regulating cell growth. When tumor suppressors are mutated or altered to be non-functional, especially in combination with mutations in other proteins, cancer may initiate or progress. 

V

Validation 
Use of an independent patient cohort to determine the population frequency of mutation(s) in a given gene. These alterations are initially detected during the project’s discovery phase. 

Verification 
Confirmation of somatic mutation(s) observed in a patient case. In general, each case within a given patient cohort will have a different profile of somatic mutations. 

W

Wildtype 
A gene or gene product that is not mutated or altered.

Last updated: January 27, 2016