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Rationalization of Genetic Testing in Patients with Apparently Sporadic Pheochromocytoma/Paraganglioma

2 Apr 2009

Abstract excerpt

Hereditary susceptibility to pheochromocytoma (PCC) and paraganglioma (PGL) represents a very complex genetic scenario. It has been reported that the absence of familial antecedents of the disease does not preclude the existence of a mutation affecting any of the five major susceptibility genes. In fact, 11-24% of apparently sporadic cases (without familial or syndromic antecedents) harbor an unexpected germline...

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PMID: 19343621
DOI: 10.1055/s-0029-1202814

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