Molecular features and clinical management of hereditary gynecological cancers

Arisa Ueki, Akira Hirasawa

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


Hereditary gynecological cancers are caused by several inherited genes. Tumors that arise in the female reproductive system, such as ovaries and the uterus, overlap with hereditary cancers. Several hereditary cancer-related genes are important because they might lead to therapeutic targets. Treatment of hereditary cancers should be updated in line with the advent of various new methods of evaluation. Next-generation sequencing has led to rapid, economical genetic analyses that have prompted a concomitant and significant paradigm shift with respect to hereditary cancers. Molecular tumor profiling is an epochal method for determining therapeutic targets. Clinical treatment strategies are now being designed based on biomarkers based on tumor profiling. Furthermore, the National Comprehensive Cancer Network (NCCN) guidelines significantly changed the genetic testing process in 2020 to initially consider multi-gene panel (MGP) evaluation. Here, we reviewed the molecular features and clinical management of hereditary gynecological malignancies, such as hereditary breast and ovarian cancer (HBOC), and Lynch, Li–Fraumeni, Cowden, and Peutz–Jeghers syndromes. We also reviewed cancer-susceptible genes revealed by MGP tests.

Original languageEnglish
Article number9504
Pages (from-to)1-17
Number of pages17
JournalInternational journal of molecular sciences
Issue number24
Publication statusPublished - Dec 2 2020


  • Cowden
  • Hereditary breast and ovarian cancer(HBOC)
  • Hereditary gynecological cancer
  • Li–Fraumeni
  • Lynch
  • Multi-gene testing
  • Peutz–Jeghers
  • Syndrome
  • Tumor profiling

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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