Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

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 pare...

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Pubblicato in:Oncotarget
Autori principali: Hoekstra, Attje S., Hensen, Erik F., Jordanova, Ekaterina S., Korpershoek, Esther, Anouk N.A., van der Horst-Schrivers, 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Impact Journals LLC 2017
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Research Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5362423/
https://ncbi.nlm.nih.gov/pubmed/28099933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.14649
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