Genetic testing in endocrine surgery: Opportunities for precision surgery

Surgery. 2020 Aug;168(2):328-334. doi: 10.1016/j.surg.2020.03.009. Epub 2020 May 4.


Recent innovations in molecular and genetic diagnostic techniques have led to rapid advances in genomic medicine and their application to the clinic. The identification and classification of various genetic associations, syndromes, and susceptibility genes in endocrine surgical disorders are increasingly relevant to patient care. Hereditary endocrine disorders represent a significant proportion of disease encountered by endocrine surgeons. Hence, genetic testing has emerged as an important adjunct for the diagnosis and management of patients with endocrine surgical disorders. This article summarizes commonly encountered inherited endocrine disorders and their tumor susceptibility genes, with a focus on the clinical utility of genetic testing and its impact on the surgical management of endocrine disorders.

Publication types

  • Review

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Adrenal Gland Neoplasms / surgery
  • Endocrine Surgical Procedures*
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Hyperparathyroidism, Primary / genetics*
  • Hyperparathyroidism, Primary / surgery
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / surgery

Supplementary concepts

  • Hyperparathyroidism 1