Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

BAUSCH B., SCHIAVI F., NI Y., Welander J., Patocs A., NGEOW J., ...More

JAMA ONCOLOGY, vol.3, no.9, pp.1204-1212, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 3 Issue: 9
  • Publication Date: 2017
  • Doi Number: 10.1001/jamaoncol.2017.0223
  • Title of Journal : JAMA ONCOLOGY
  • Page Numbers: pp.1204-1212


IMPORTANCE Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking.