Original Publication Date: 1 August, 2015
Publication / Source: International Journal of Endocrine Oncology
Authors: Arthur S Tischler & Judith Favier
Pheochromocytomas (PCCs) and extra-adrenal paragangliomas (PGLs) are the most hereditarily driven of all human tumors. Germline mutations of at least 15 genes are now known to confer susceptibility to these tumors in nearly half of affected patients . Somatic mutations of the same genes and others account for a sizable percentage of the tumors that are sporadic [1,2]. Genotype–phenotype correlations associated with each driver mutation determine tumor location, biochemical function, multiplicity, metastatic potential and development of syndromically associated abnormalities.
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