Archives: Glossary

An oncogene is a mutated version of a normal gene, called a proto-oncogene, that can cause cancer by promoting uncontrolled cell growth and division. Normally, proto-oncogenes help regulate cell growth and division, but when a mutation causes too many copies or makes the gene more active than normal, it can promote cancer development.

A study that tries to identify common variations in the complete set of DNA (the genome) in a very large group of people to look for associations of these variations with a particular disease (or another trait). The GWAS lays the groundwork for personalised medicine.

Describes the passing of genetic information from parent to child (offspring) through the genes in sperm and egg cells.

A prediction of disease risk based on a person’s genetic information. This may include many different genetic changes and can be used alongside other risk factors, such as age, lifestyle or family history. See also risk, risk factor and genetics/genome.

An inherited increase in the risk of developing a disease. People can inherit certain genetic changes that make them more likely to develop cancer, for example mutations in the BRCA1 and BRCA2 genes significantly increase the risk of breast and ovarian cancers (see BRCA1 and BRCA2). Most cancers are not linked to inherited gene changes. Hereditary cancer: Cancer that develops […]

Genetics is the study of genes and hereditary. The genome is the entire collection of genes found in an organism. In people, almost every cell in the body contains a complete copy of the genome. The genome contains all the information needed for a person to develop and grow. Researchers can study the genome through […]

Describes the activity of genes being “expressed” and turned into RNA and proteins. When the gene is turned on (i.e. expressed) a protein is made which exerts a specific function. See epigenetics.

A score that combines the effects of many small genetic variations to estimate a person’s risk of developing a disease, such as cancer. See also SNP, risk and genetics/genome.

A gene is a section of DNA. Most genes carry instructions to make proteins, which are essential for the structure, function, and regulation of the body’s tissues and organs. These proteins influence traits such as hair colour, eye colour, and height, as well as the risk of developing certain diseases. Typically, many genes work together […]

A technology that enables scientists to make specific changes to DNA, which can alter traits. Scientists use different technologies to edit genes. These tools act like a molecular “cut and paste” system: DNA is cut at specific locations, and scientists can then remove, add, or replace DNA sequences. CRISPR is one type of gene editing […]