Gynecologic cancers are more often caused by genetic factors than other cancers. Genetic testing has become a promising avenue for the prevention, prognosis, and treatment of cancers. This review describes molecular features of gynecologic tumors linked to hereditary syndromes, gives an overview of the current state of clinical management, and clarifies the role of gynecology in the treatment of hereditary tumors. Typical hereditary gynecologic tumors include hereditary breast and ovarian cancer, Lynch syndrome, Peutz–Jeghers syndrome, and Cowden syndrome. Multigene panel testing, which analyzes a preselected subset of genes for genetic variants, has recently become the first-choice test because it can provide more accurate risk assessment than a single test. Furthermore, comprehensive genomic cancer profiling enables personalized cancer treatment and aids in germline findings.

Original languageEnglish
Pages (from-to)1076-1090
Number of pages15
JournalJournal of Obstetrics and Gynaecology Research
Issue number5
Publication statusPublished - May 2022


  • Cowden syndrome
  • hereditary breast and ovarian cancer syndrome
  • homologous recombination deficiency
  • Lynch syndrome
  • multigene panel testing
  • Peutz–Jeghers syndrome

ASJC Scopus subject areas

  • Obstetrics and Gynaecology


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