1.
Individuals who inherit a pathogenic mutation in SDHA have an increased risk of cancer. However, there is often insufficient evidence to properly assess pathogenicity, an [...]
2023-12-14 | Dissertation |
2.
Genetic inactivation of SDHA can lead to succinate dehydrogenase (SDH)-deficiency and is implicated in a variety of human diseases. In particular, germline loss-of-functi [...]
2022 | Abstract |
3.
The majority of gastrointestinal stromal tumor (GIST) are driven by mutations in KIT or platelet derived growth factor receptor alpha (PDGFRA) receptor tyrosine kinases. [...]
2022 | Abstract |
4.
Gastrointestinal stromal tumor (GIST) is the most common sarcoma of the GI tract. The second most common type of GIST is driven by oncogenic mutations in PDGFRA, of which [...]
2021 | Abstract |