Guidelines on Germline Testing for Urologic Tumor Syndromes

Eur Urol Focus. 2022 May;8(3):670-673. doi: 10.1016/j.euf.2022.06.010. Epub 2022 Jul 6.

Abstract

In the expanding precision medicine landscape, along with improvements in and the availability of testing, the use of genetics in the evaluation and treatment of patients has increased significantly. Multiple urologic cancers in different organ systems associated with an inherited gene mutation have been described. As these mutations can impact screening and treatment decisions for patients and their families, it is important for providers to be familiar with the current guidelines for germline testing. Here we summarize the current guidelines regarding germline testing for patients with suspected urologic tumor syndromes. PATIENT SUMMARY: Several cancers of the genitourinary tract can be associated with inherited genetic mutations. Knowledge of when to test for these mutations has implications for both treatment and screening of patients and their family members at risk of genitourinary cancers.

Keywords: Germline testing; Hereditary urologic tumor syndromes.

Publication types

  • Practice Guideline

MeSH terms

  • Genetic Testing*
  • Germ Cells
  • Germ-Line Mutation / genetics
  • Humans
  • Syndrome
  • Urologic Neoplasms* / diagnosis
  • Urologic Neoplasms* / genetics