Article
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Oncotarget - 28 Feb 2017
Hoekstra Attje S, Hensen Erik F, Jordanova Ekaterina S, Korpershoek Esther, van der Horst-Schrivers Anouk Na, Cornelisse Cees, Corssmit Eleonora P M, Hes Frederik J, Jansen Jeroen C, Kunst Henricus P M, Timmers Henri J L M, Bateman Adrian, Eccles Diana, Bovée Judith V M G, Devilee Peter, Bayley Jean-Pierre
Abstract excerpt
Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. While SDHB (1p36) and VHL (3p25) are associated with autosomal dominant disease, SDHD (11q23) and SDHAF2 (11q13) show a remarkable parent-of-origin effect whereby tumor formation is almost completely dependent on paternal transmission of the mutant...
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