Genetics and Molecular Medicine Terms

A rare inherited condition in which one or more tumors form in the parathyroid glands (four pea-sized organs found on the thyroid) and cause them to make too much parathyroid hormone.

An inherited form of medullary thyroid cancer (cancer that forms in the cells of the thyroid that make the hormone calcitonin).

Familial polyposis is an inherited disorder causing hundreds of colorectal polyps that carry a near certain lifetime risk of colorectal cancer.

An inherited condition marked by the following: (1) one or more first- or second-degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; (2) many…

A rare inherited disorder in which the bone marrow does not make blood cells.

A rare inherited condition in which one or more tumors form in the parathyroid glands (four pea-sized organs found on the thyroid) and cause them to make too much parathyroid hormone.

A laboratory technique used to look at genes or chromosomes in cells and tissues.

A gene made by joining parts of two different genes.

A protein made from a fusion gene, which is created by joining parts of two different genes.

Few traits trace back to a single gene, which is why most inherited risk is spread thinly across a great many of them.

An increase in the number of copies of a gene.

The loss of all or a part of a gene.

Gene expression is the multistep process converting a gene's DNA sequence into RNA and, often, a functional protein, and its level can be measured directly.

Information about all messenger RNAs that are made in various cell types.

Instead of managing the effects of a faulty gene for a lifetime, the aim is to change the instruction the cell is reading.

The insertion of genetic material into a cell.

Cells that have been altered to contain different genetic material than they originally contained.

Genetic and hereditary are not synonyms, since every cancer is genetic in origin while only a small share of cancers are inherited.

The study of a sample of DNA to look for mutations (changes) that may increase risk of disease or affect the way a person responds to treatment.

A communication process between a specially trained health professional and a person concerned about the genetic risk of disease.