The United States Food and Drug Administration (FDA) approved Welireg (belzutifan) for adult and pediatric patients 12 years and older with locally advanced, unresectable or metastatic ...

Genetics Hereditary catecholamine-producing pheochromocytomas and paragangliomas can be caused by germ-line mutations in any one of five genes identified to date: the rearranged during ...

Final histology showed a 17 mm paraganglioma with clear surgical margins. Immunohistochemistry suggested a succinate dehydrogenase subunit B (SDHB)-deficient tumour, raising the possibility of ...

There are three CPS that have established guidelines on the use of WB-MRI—Li-Fraumeni syndrome (LFS), constitutional mismatch repair deficiency syndrome (CMMRD), and hereditary ...

The FDA has granted Priority Review to Merck's supplemental new drug application (sNDA) for Welireg (belzutifan), an oral HIF-2α inhibitor, for treating adult and pediatric patients over 12 years of ...

Hereditary hemochromatosis is a genetic condition that causes the body to absorb too much iron from food. This can lead to symptoms such as tiredness, weakness, joint pain, and changes in skin color.

The SDH genes which encodes SDH’s four subunits have been characterised as tumour suppressor genes. 1 Specifically, germline mutations in SDH genes can result in hereditary paraganglioma ...

Key Takeaways Hereditary breast cancer results from inherited mutations, primarily in BRCA1 and BRCA2, increasing lifetime cancer risk. Additional genes like TP53, PTEN, PALB2, CHEK2, and ATM also ...

Pheochromocytoma vs. Paraganglioma Other tumors made of the same neuroendocrine cells as pheochromocytomas can also develop outside of the adrenal glands, most often in the head and neck, the bladder, ...

I107V (c.379A>G; p.I127V) S77Y (c.290C>A; p.S97Y) In patients with hereditary ATTR, variants in the transthyretin (TTR) gene occur that lead to destabilization of the TTR protein. This, in turn, ...

Hereditary hemochromatosis is a genetic condition that causes the buildup of iron in your body. It’s important to receive a diagnosis and treatment as soon as possible to avoid organ damage.