What does variant of uncertain significance?
A “variant of uncertain significance” (VUS) is a genetic change whose impact on the individual’s cancer risk is not yet known. Everyone’s genes are slightly different. Some genetic changes (variants) do not affect the gene’s function and therefore do not increase cancer risk.
What does variant mean in cancer?
(VAYR-ee-unt) Any change in the DNA sequence of a cell. Variants may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Variants can be harmful, beneficial, or have no effect.
What does it mean if you have a gene variant?
A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because changes in DNA do not always cause disease, it is thought that gene variant is a more accurate term.
What is a pathogenic variant?
Listen to pronunciation. (PA-thoh-JEH-nik VAYR-ee-unt) A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain.
How common are VUS?
VUS are not uncommon, and patients need to be prepared for the possibility of finding one during genomic testing. In a study of 1,197 individuals undergoing NGS in 36 genes associated with hereditary breast cancer, approximately 35% have one or more VUS.
What does uncertain significance mean on genetic testing?
• Variant of uncertain significance (VUS): This means that the test found a. genetic change, but there is not enough known about the change to give. a diagnosis. In some cases, testing other family members can help us. better understand what the genetic change means.
Are gene variants bad?
No; only a small percentage of variants cause genetic disorders—most have no impact on health or development. For example, some variants alter a gene’s DNA sequence butdo not change the function of the protein made from the gene.
What does uncertain significance mean in genetic testing?
Are mutations good or bad?
Most mutations are not harmful, but some can be. A harmful mutation can result in a genetic disorder or even cancer. Another kind of mutation is a chromosomal mutation.
What is a low penetrance variant?
Penetrance refers to the proportion of people with a particular genetic variant (or gene mutation) who exhibit signs and symptoms of a genetic disorder. If some people with the variant do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance.
What is the difference between a pathogenic mutation and a variant of uncertain significance?
When the variant has no impact on health, it is called a “benign variant”. When it is associated with a disease, it is called a “pathogenic variant”. A “pharmacogenomic variant” has an effect only when an individual takes a particular drug and therefore is neither benign nor pathogenic.
Are most VUS benign?
Most genetic variants are benign. In other words, they do not change the risk of disease. Even in genes that are known to cause specific diseases, most variants do not cause any change in disease risk.