SDHB

New Study Aids in the Diagnosis of Hereditary Paraganglioma and Pheochromocytoma

A recent study in Cancer Genetics, International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma, is important for GIST patients who carry a germline SDHB mutation

By |2021-09-09T11:41:15-04:00September 9th, 2021|News, Pediatric GIST, Research, SDH-Deficient GIST|

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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