SDH mutations

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LRG Webcast: Genetic Testing and SDHx Mutations

Genetic Testing and SDHx Mutations: What do they have to do with PGL/GIST/Pheos? This webcast highlights how SDHx mutations impact risks for paraganglioma, pheochromocytomas, and GIST, why genetic testing is helpful for any diagnosis [...]

By |2020-07-09T16:27:33-04:00May 7th, 2019|GIST Education, Mutational Testing, Webcast|

14th NIH Pediatric and Wildtype GIST Clinic Convenes

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.

By |2019-11-08T10:25:09-05:00June 23rd, 2016|News, Pediatric GIST|
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