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

@inproceedings{Hoekstra2017LossOM,
  title={Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas},
  author={Attje S. Hoekstra and Erik Frans Hensen and Ekaterina S Jordanova and Esther Korpershoek and van der Horst-Schrivers Anouk N.A. and Cees J. Cornelisse and Eleonora P. M. Corssmit and Frederik J Hes and Jeroen C. Jansen and Henricus P. M. Kunst and Henri J.L.M. Timmers and Adrian C Bateman and Diana M Eccles and Judith Vmg Bov{\'e}e and Peter Devilee and Jean-Pierre Louis Bayley},
  booktitle={Oncotarget},
  year={2017}
}
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 allele. Loss of the entire maternal copy of chromosome 11 occurs frequently in SDHD… CONTINUE READING

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