What are the clinical steps for identifying familial GIST?
The first step in identifying familial GIST would be to speak with a physician, genetic counselor or other genetics professional to review your personal and family history. Based on the information that you provide, they may be able to help you evaluate the risk that your family has a familial form of GIST and determine whether additional genetic evaluation would be warranted. If appropriate based on your personal and family history, it may then be recommended that an affected family member (someone who has had a GIST) undergo genetic testing to try and determine whether there is a germ-line mutation in the c-kit or PDGFRA gene in the family. Genetic tests are performed on a sample of DNA from blood or saliva. If an alteration were identified in one of these genes, other family members could then undergo genetic testing to determine whether they have also inherited the familial mutation. Only those relatives with the familial mutation would be at increased risk to develop GIST, whereas
