Every family and every variant is different. Reading individual stories of efforts to find out more about variants of uncertain significance can help you find out what kinds of information might be helpful to you.
Examples
- Amelia’s family – This example is of a woman with breast cancer talking to her family, obtaining tumor tissue from a deceased ancestor, and using social media to find distant relatives in order to find out that her variant causes increased cancer risk.
- Brenda’s family – This example is of a woman with breast cancer who was able to obtain tumor tissue from an aunt to find out that her variant did not cause increased cancer risk.
- Charlie’s family – This example is of a man with colon cancer talking to his family, finding out about his great-grandparents, and discovering a branch of his family tree he was not aware of in order to find out that his variant does not cause cancer risk.
- Darcy’s family – This example is of a woman with breast cancer who had two VUS in different genes trying to figure out which of her two variants traveled with cancer in her family and which did not.
- Emily’s family – This example is of a woman with a history of several colon polyps who was able to find out her variant causes increase cancer risk after only testing her parents.
Examples contain diagrams of family trees or pedigrees that are similar to the family tree a genetic counselor would draw at a genetics visit. This diagram shows some of the elements of a pedigree diagram that you will see in the examples. In this diagram the father is represented by a clear square, the mother is a clear circle, and there are three daughters are each filled-in circles. The filled-in circles show that all three daughters have the same disease. The plus symbols show that they each inherited the same rare VUS from their father. In some examples it may say “+ VUS” or “- VUS” below a persons symbol to show if they are known to have the VUS or not. There may also be other information about a person written under their symbol, such as their name, the disease they have, and the age they were diagnosed with that disease. This type of information is necessary to do family analysis to find out more about a VUS.