We are fortunate to have Dr. Alvaro Monteiro, who is a molecular geneticist and expert on the BRCA1 and BRCA2 genes, as a member of our team. For our first ICARE newsletter, Dr. Monteiro teaches us about Variants of Uncertain Significance.
Q. What is a Variant of Uncertain Significance (VUS) test result? How do researchers learn more information about variants?
A. A variant of uncertain significance test result is when a change is found in the tested DNA for which there is no clear answer to determine if the change leads to an increased risk of developing cancer. To determine whether a particular variant is linked to increased cancer risk, researchers use a series of tools that include studying families with the variant (to determine whether the variant tracks with cancer), comparing the gene code in different species (for example dog, mouse, chicken and fish) to determine the importance of this particular area in the gene (important areas of the gene stay the same with different species), computer programs, and functional tests that study how the gene may work (or not work) with the variant.