Open AccessPathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome
Author(s) -
Zoran Erlic,
Michael M. Hoffmann,
Maren Sullivan,
Gerlind Franke,
Mariola Pęczkowska,
Igor Alexander Harsch,
M. Schott,
Helmut E. Gabbert,
Matti Välimäki,
Simon F. Preuss,
Kornelia Hasse-Lazar,
Dariusz Waligórski,
Mercedes Robledo,
Andrzej Januszewicz,
Charis Eng,
Hartmut P.H. Neumann
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-1728
Subject(s) - pheochromocytoma , context (archaeology) , genetics , paraganglioma , multiple endocrine neoplasia , biology , multiple endocrine neoplasia type 2 , gene , molecular genetics , mutation , germline mutation , medicine , pathology , endocrinology , paleontology
Cancer genetics is fundamental for preventive medicine, in particular in pheochromocytoma-associated syndromes. Variants in two susceptibility genes, SDHC and RET, were found in a kindred with head and neck paraganglioma. This observation of coincident DNA variants, both reported as pathogenic, in two known susceptibility genes prompted the question of their pathogenic relevance.
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