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Article

Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma

5 Apr 2013

Abstract excerpt

BACKGROUND: Recent findings have shown that up to 60% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are caused by germline or somatic mutations in one of the 11 hitherto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, HIF2A (EPAS1), RET, NF1, TMEM127 and MAX. This list of genes is constantly growing and the 11 genes together consist of 144 exons. A genetic screening test is extensively...

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PMID: 23781326
DOI: 10.1530/ec-13-0009

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