Germline Variants of Uncertain Significance in Gynecologic Oncology Patients

Clin Obstet Gynecol. 2024 Dec 1;67(4):672-675. doi: 10.1097/GRF.0000000000000898. Epub 2024 Sep 26.

Abstract

Germline and somatic genetic/genomic testing are commonly ordered for gynecologic oncology patients. Genetic tests can inform disease etiology, prognosis, treatment decisions, and risk to the patient's relatives. Variants of uncertain significance (VUSs) are frequently encountered and have a more nuanced interpretation than straightforward pathogenic or benign variant classifications. Clinical care providers should be familiar with why and how VUSs are reported, their clinical significance, variant reclassification practices, and patient perceptions of VUSs.

Publication types

  • Review

MeSH terms

  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Genital Neoplasms, Female* / genetics
  • Germ-Line Mutation*
  • Humans