A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

@article{Rattenberry2013ACN,
  title={A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.},
  author={Eleanor Rattenberry and Lindsey Vialard and Anna H Yeung and Hayley Bair and Kirsten McKay and Mariam Jafri and Natalie L E Canham and Trevor R. P. Cole and Judit D{\'e}nes and Shirley Victoria Hodgson and R. H. Irving and Louise Izatt and M{\'a}rta Korbonits and Ajith Kumar and Fiona Lalloo and Patrick John Morrison and Emma R. Woodward and Fiona Macdonald and Yvonne L. Wallis and Eamonn R Maher},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2013},
  volume={98 7},
  pages={E1248-56}
}
CONTEXT Pheochromocytomas and paragangliomas are notable for a high frequency of inherited cases, many of which present as apparently sporadic tumors. OBJECTIVE The objective of this study was to establish a comprehensive next generation sequencing (NGS)-based strategy for the diagnosis of patients with pheochromocytoma and paraganglioma by testing simultaneously for mutations in MAX, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and VHL. DESIGN After the methodology for the assay was… CONTINUE READING

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