Genetic Testing and SDHx Mutations: What do they have to do with PGL/GIST/Pheos? LISTEN TO WEBCAST This webcast will highlight how SDHx mutations impact risks for paraganglioma, pheochromocytomas, and GIST. We’ll discuss [...]
How Is It Related to Cancer, and What Can Be Done About It? SDH is a protein that is based in the mitochondria. Its loss causes a major energy and metabolic crisis. Despite this, some [...]
The 2018 Life Fest Meeting was held in Miami on July 13 - 15 and was attended by 140 patients, friends, family and caregivers. This was a truly international event, with participation from 20 [...]
Cancer. We all know someone who has it or we know someone who knows someone who has it. Either way, it’s a subject that is kind of taboo. Firstly, the majority of the population think when they first hear the big C-word is that you’re going to be bald, you only get cancer when you’re old and you probably (hopefully not) will die.
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.
My name is Stacey McAully and for those of you who don't know, I was the first pediatric diagnosis of GISTs in Scotland. I have had 2 serious surgeries and was on Gleevec for [...]