Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

@article{GimenezRoqueplo2003MutationsIT,
  title={Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.},
  author={Anne-paule Gimenez-Roqueplo and Judith Favier and Pierre Rustin and Claudine Rieubland and Malvina Crespin and Val{\'e}rie Nau and Philippe Khau Van Kien and Pierre Corvol and P. -F. Plouin and Xavier Jeunema{\^i}tre},
  journal={Cancer research},
  year={2003},
  volume={63 17},
  pages={5615-21}
}
Germ-line mutations in the genes encoding succinate dehydrogenase complex subunits B (SDHB) and D (SDHD) have been reported in familial paragangliomas and apparently sporadic phaeochromocytomas (ASP), but the genotype-phenotype relationships of these mutations are unknown. Eighty-four patients (all but 2 followed up for 8.8 +/- 5.7 years) with ASP (57 with adrenal tumors, 27 with extra-adrenal, multiple, malignant, or recurrent tumors) were screened for the major susceptibility genes for… CONTINUE READING
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