Hereditary gynecologic cancers: differential diagnosis, surveillance, management and surgical prophylaxis

Fam Cancer. 2008;7(1):53-8. doi: 10.1007/s10689-007-9144-x. Epub 2007 Jul 17.


The main cancer susceptibility syndromes that involve gynecologic cancers include Breast-Ovarian Cancer Syndrome and Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer Syndrome. For uterine cancer, approximately 5% of all cases are likely due to a hereditary cause and for ovarian cancer, approximately 10% are due to an inherited cause. Gynecologic oncologists play an important role in identifying women with ovarian or endometrial cancer who may have these syndromes. Personal and family history of relevant cancers assists with identification. For those women without cancer who are found to have a hereditary cancer syndrome, effective counseling in the prevention and early detection of cancers is crucial.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / therapy
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / therapy
  • Contraceptives, Oral / therapeutic use
  • Diagnosis, Differential
  • Endometrial Neoplasms / diagnosis*
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / therapy
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Counseling
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Testing
  • Humans
  • Hysterectomy
  • Middle Aged
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / therapy
  • Ovariectomy
  • Risk Factors


  • Contraceptives, Oral