Molecular Features and Clinical Management of Hereditary Gynecological Cancers

Int J Mol Sci. 2020 Dec 14;21(24):9504. doi: 10.3390/ijms21249504.


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.

Keywords: Cowden; Li–Fraumeni; Lynch; Peutz–Jeghers; hereditary breast and ovarian cancer (HBOC); hereditary gynecological cancer; multi-gene testing; syndrome; tumor profiling.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / genetics
  • Breast Neoplasms / metabolism*
  • Breast Neoplasms / pathology*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / metabolism*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology*
  • Female
  • Genetic Predisposition to Disease / genetics
  • Hereditary Breast and Ovarian Cancer Syndrome / genetics
  • Hereditary Breast and Ovarian Cancer Syndrome / metabolism
  • Hereditary Breast and Ovarian Cancer Syndrome / pathology*
  • High-Throughput Nucleotide Sequencing
  • Humans

Supplementary concepts

  • Breast Cancer, Familial