If you have a mutation of any of the SDH subunits (a,b,c, or d), the next important question to ask is whether or not it is a germline mutation. (So far, data has indicated that 80% of SDH-deficient tumors are germline). The term "germline" means that the mutation is present in every cell of your body. Germline mutations are hereditary, and can be passed on to your children. For this reason, genetic testing and counseling could be informative for parents, siblings and other family members. If a family member tests positive for the mutation, this does not mean that they will get GIST.
My husband Brian, and I have been married 33 years and have worked together in an 8 x 10 room. Brian has literally been by my side since marriage. When I was diagnosed with Wildtype GIST, we knew this was a journey we’d be taking on together.
For many years, wild-type GIST tumors were a mystery. In 2007, Barbara Pasini, J. Aidan Carney, Constantine Stratakis and colleagues identified the first mutations in pediatric GIST tumors in a protein called succinate dehydrogenase (SDH). Coding (instructions) for making the SDH protein is contained in four subunits (genes), SDHA, SDHB, SHDC and SDHD. The group, led by Constantine Stratakis, initially reported mutations in three of the four subunits; SDHB, SHDC and SDHD. SHDA remained a mystery.