Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.
Bottom Line: In contrast, the variant was defective with respect to downregulation of JunB. pVHL X214L, like other pVHL variants associated with a low risk of clear cell renal carcinoma, largely preserves the ability to downregulate HIF.In contrast, this variant, like other pVHL variants linked to Type 2A disease, fails to suppress JunB.This underscores that JunB may play a role in the pathogenesis of Type 2A VHL disease.
Affiliation: City of Hope National Medical Center, Duarte, California 91010-3000, USA. email@example.comShow MeSH
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Mentions: Our proband is a 20-year-old female referred for cancer genetics consultation due to a personal history of two synchronous primary tumors (a second primary pheochromocytoma and a malignant neuroendocrine tumor of the pancreas) and a family history of early-onset pheochromocytomas. A four-generation pedigree was obtained (Fig. 2).
Affiliation: City of Hope National Medical Center, Duarte, California 91010-3000, USA. firstname.lastname@example.org