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., ...Daha Fazla

JAMA ONCOLOGY, cilt.3, ss.1204-1212, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 3 Konu: 9
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1001/jamaoncol.2017.0223
  • Dergi Adı: JAMA ONCOLOGY
  • Sayfa Sayıları: ss.1204-1212

Özet

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.