Knowing if you have an SDHB mutation can help you manage your medical care. If you know you have an SDHB mutation, it is important to find tumors early. It is also important to tell your doctor that you have this mutation before any medical procedures. Recommendations may vary according to your age. Ages 8-18:

SDHB is one of four protein subunits forming succinate dehydrogenase, the other three being SDHA, SDHC and SDHD. The SDHB subunit is connected to the SDHA subunit on the hydrophilic, catalytic end of the SDH complex. It is also connected to the SDHC / SDHD subunits on the hydrophobic end of the complex anchored in the mitochondrial membrane.

Mutations in the SDHx genes increase someone’s risk for paragangliomas, tumors in the digestive system (called gastrointestinal stromal tumors, or GISTs), and kidney cancer. People with SDHx mutations can get blood tests and imaging tests to screen for these tumors.

The SDHB gene provides instructions for making one of four subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use.

Jan 28, 2025 · Our mission is to educate healthcare professionals and patients on the SDHB genetic germline mutation as well as its role and impact in this orphan disease, namely Pheochromocytoma and Paraganglioma. Please explore this site further to find out more about these devastating diseases…

Dec 11, 2024 · What is my cancer risk if I have an SDHB mutation? If you have a mutation in the SDHB gene, this means you have a condition called hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome.

Research into the SDHB gene has revealed several important findings: Essential Functions: The SDHB gene encodes for a subunit of the enzyme succinate dehydrogenase, crucial for the Krebs cycle and the electron transport chain.

Jun 18, 2021 · A. SDHB is a mitochondrial enzyme found in all normal cells and its usual immunostaining pattern is cytoplasmic and granular. Loss of SDHB suggests a genetic defect in one of the SDH related genes and is seen in SDH deficient neoplasms. Which of the following tumors are associated with loss of SDHB by immunohistochemistry in a subset of cases?

Dec 25, 2024 · This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits.

Approximately 10%–15% of GISTs are driven by alternative mechanisms, such as inactivating mutations in the NF1 gene [5] or genes encoding the succinate dehydrogenase (SDH) subunits, collectively referred to as wild‐type GISTs [6].

Mutations in the SDHx genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the mitochondrial enzyme succinate dehydrogenase (SDH), are associated with a predisposition for developing hereditary phaeochromocytoma and/or paraganglioma (PPGL) 1.

Here we describe cancer patients undergoing agnostic germline testing at Memorial Sloan Kettering Cancer Center and found to harbor germline SDHA mutations. Using targeted sequencing covering the cancer census genes, we identified 10 …

We show here that two factors, Sdh6 (SDHAF1) and Sdh7 (SDHAF3), mediate maturation of the FeS cluster SDH subunit (Sdh2/SDHB). Yeast and Drosophila lacking SDHAF3 are impaired in SDH activity with reduced levels of Sdh2. Drosophila lacking the Sdh7 ortholog SDHAF3 are hypersensitive to oxidative stress and exhibit muscular and neuronal dysfunction.

SDHB is a ‘tumour protection’ gene that helps to protect against benign (non-cancerous) and malignant (cancerous) tumours. Everyone has two SDHB genes (one from their mother, and one from their father). If one of these genes is not working, this is known as having a faulty SDHB gene, or having an SDHB mutation.

Whole-body MRI had a higher sensitivity for SDH-related tumors than biochemical testing in patients undergoing screening due to their SDHB or SDHC mutation status. Whole-body MRI reduces radiation exposure compared to computed tomography scan and time compared to dedicated MRI of the head/neck, thorax, and abdomen/pelvis.

Our in vitro studies in human cells show that SDHAF3 interacts with SDHB (residues 46 and 242), with impaired interaction observed in the presence of the SDHAF3 c.157 T > C variant. Our studies reveal novel insights into the biogenesis of SDH, uncovering a vital interaction between SDHAF3 and SDHB.

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are familial cancer syndromes characterized by benign or malignant neuroendocrine tumors. PGL/PCC tumors can affect both the sympathetic nervous system and the parasympathetic nervous system.

Aug 5, 2014 · We show here that two factors, Sdh6 (SDHAF1) and Sdh7 (SDHAF3), mediate maturation of the FeS cluster SDH subunit (Sdh2/SDHB). Yeast and Drosophila lacking SDHAF3 are impaired in SDH activity with reduced levels of Sdh2. Drosophila lacking the Sdh7 ortholog SDHAF3 are hypersensitive to oxidative stress and exhibit muscular and neuronal dysfunction.

Pathogenic germline variants in multiple genes have been implicated in hereditary gastrointestinal (GI) cancer. Hereditary cancer predisposition is often characterized by early age of onset (typically before age 50) and multiple, multifocal, and/or related cancers in a single individual or in closely related family member (s).

RiskScore analyzes over 100 genetic markers combined with the Tyrer-Cuzick model to estimate a woman’s risk for developing breast cancer. RiskScore is calculated for women under age 85 without a personal history of breast cancer, LCIS, hyperplasia, atypical hyperplasia, or a breast biopsy with unknown results.