Article
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
The Lancet. Oncology - 1 Apr 2010
Bayley Jean-Pierre, Kunst Henricus P M, Cascon Alberto, Sampietro Maria Lourdes, Gaal José, Korpershoek Esther, Hinojar-Gutierrez Adolfo, Timmers Henri J L M, Hoefsloot Lies H, Hermsen Mario A, Suárez Carlos, Hussain A Karim, Vriends Annette H J T, Hes Frederik J, Jansen Jeroen C, Tops Carli M, Corssmit Eleonora P, de Knijff Peter, Lenders Jacques W M, Cremers Cor W R J, Devilee Peter, Dinjens Winand N M, de Krijger Ronald R, Robledo Mercedes
Abstract excerpt
BACKGROUND: Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC, and SDHB. Previous studies have shown the imprinted SDHAF2 gene to be mutated in a large Dutch kindred with paragangliomas. We aimed to identify SDHAF2 mutation carriers, assess the clinical genetic significance of SDHAF2, and describe the associated clinical phenotype....
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