A test result that indicates an individual is
affected and/or has a certain
gene mutation when he or she is actually
unaffected and/or does not have the mutation; i.e., a
positive test result in a truly unaffected or mutation-negative individual.
affected
Individuals in a pedigree who exhibit the specific phenotype under study.
Source: The National Cancer Institute's Dictionary of Cancer Terms
(http://www.cancer.gov/dictionary)gene (jeen)
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.
Source: The National Cancer Institute's Dictionary of Cancer Terms
(http://www.cancer.gov/dictionary)mutation (myoo-TAY-shun)
Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if mutations occur in other types of cells, they are not inherited. Certain mutations may lead to cancer or other diseases.
Source: The National Cancer Institute's Dictionary of Cancer Terms
(http://www.cancer.gov/dictionary)positive test result (PAH-zih-tiv ... reh-ZULT)
A test result that reveals the presence of a specific disease or condition for which the test is being done.
Source: The National Cancer Institute's Dictionary of Cancer Terms
(http://www.cancer.gov/dictionary)unaffected
An individual who does not manifest symptoms of a condition or disease occurring in his or her family.
Source: The National Cancer Institute's Dictionary of Cancer Terms
(http://www.cancer.gov/dictionary)
