Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.

@article{Pczkowska2013TestingNS,
  title={Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.},
  author={Mariola Pęczkowska and Aldona Kowalska and Jacek Sygut and Dariusz Waligorski and Angelica Malinoc and Hanna Janaszek-Sitkowska and Aleksander Prejbisz and Andrzej A Januszewicz and Hartmut P. H. Neumann},
  journal={Clinical endocrinology},
  year={2013},
  volume={79 6},
  pages={
          817-23
        }
}
BACKGROUND Phaeochromocytoma (PCC) and paraganglioma (PGL) can occur sporadically or as a part of familial cancer syndromes. Red flags of hereditary syndromes are young age and multifocal tumours. We hypothesized that such patients are candidates for further molecular diagnosis in case of normal results in 'classical' genes. MATERIAL AND METHODS We selected patients with PCC/PGL under the age of 40 and/or with multiple tumours. First, we tested the genes RET, VHL, NF1, SDHB, SDHC and SDHD… CONTINUE READING
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